Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 80258 |
|---|---|
| ensemblid | ENSG00000183690.13 |
| hgncid | 26233 |
| symbol | EFHC2 |
| name | EF-hand domain containing 2 |
| refseq_nuc | NM_025184.4 |
| refseq_prot | NP_079460.2 |
| ensembl_nuc | ENST00000420999.2 |
| ensembl_prot | ENSP00000404232.2 |
| mane_status | MANE Select |
| chr | chrX |
| start | 44147872 |
| end | 44343672 |
| strand | - |
| ver | v1.2 |
| region | chrX:44147872-44343672 |
| region5000 | chrX:44142872-44348672 |
| regionname0 | EFHC2_chrX_44147872_44343672 |
| regionname5000 | EFHC2_chrX_44142872_44348672 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 749 | 168 | 49 | 25 | 69 | 5 | 18 | 49 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0002 | 0/0 | 749 | 20 | 3 | 9 | 8 | 0 | 0 | 5 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0003 | 0/0 | 749 | 12 | 1 | 9 | 0 | 0 | 2 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0004 | 0/0 | 749 | 5 | 3 | 2 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0005 | 0/0 | 749 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0006 | 0/0 | 749 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0007 | 0/0 | 749 | 2 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0008 | 0/0 | 749 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0009 | 0/0 | 37 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0010 | 0/0 | 749 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0011 | 0/0 | 203 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0012 | 0/0 | 447 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0013 | 0/0 | 745 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 1/1 | 2250 | 163 | 45 | 24 | 69 | 5 | 18 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0002 | 0/0 | 2250 | 18 | 3 | 9 | 6 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0003 | 0/0 | 2250 | 12 | 1 | 9 | 0 | 0 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0004 | 0/0 | 2250 | 5 | 3 | 2 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0005 | 0/0 | 2250 | 4 | 0 | 0 | 4 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0006 | 0/0 | 2250 | 4 | 4 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0007 | 0/0 | 2250 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0008 | 0/0 | 2250 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0009 | 0/0 | 2250 | 2 | 1 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0010 | 0/0 | 2250 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0011 | 0/0 | 2251 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0012 | 0/0 | 2250 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0013 | 0/0 | 2249 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0014 | 0/0 | 2249 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0015 | 0/0 | 2250 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| c0016 | 0/0 | 2251 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/1 | 1009 | 73 | 22 | 12 | 29 | 4 | 5 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0002 | 0/0 | 1013 | 39 | 14 | 18 | 1 | 0 | 6 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0003 | 0/0 | 1019 | 27 | 1 | 4 | 19 | 1 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0004 | 0/0 | 1011 | 22 | 1 | 5 | 11 | 0 | 5 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0005 | 0/0 | 1017 | 15 | 0 | 0 | 15 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0006 | 0/0 | 1021 | 8 | 5 | 0 | 3 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0007 | 0/0 | 1015 | 7 | 1 | 3 | 3 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0008 | 0/0 | 1009 | 5 | 5 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0009 | 0/0 | 1013 | 5 | 3 | 2 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0010 | 0/0 | 1023 | 3 | 2 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0011 | 0/0 | 1017 | 3 | 1 | 0 | 1 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0012 | 0/0 | 1009 | 2 | 2 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0013 | 1/0 | 1008 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0014 | 0/0 | 1020 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0015 | 0/0 | 1014 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0016 | 0/0 | 1010 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0017 | 0/0 | 1017 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0018 | 0/0 | 1015 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0019 | 0/0 | 1009 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0020 | 0/0 | 1010 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0021 | 0/0 | 1007 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0022 | 0/0 | 1005 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0023 | 0/0 | 1009 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| t0024 | 0/0 | 1017 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0013 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0112 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0177 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2250 | 163 | 45 | 24 | 69 | 5 | 18 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0006 | 0/0 | 2250 | 4 | 4 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0015 | 0/0 | 2250 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0002c0002 | 0/0 | 2250 | 18 | 3 | 9 | 6 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0002c0008 | 0/0 | 2250 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0003c0003 | 0/0 | 2250 | 12 | 1 | 9 | 0 | 0 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0004c0004 | 0/0 | 2250 | 5 | 3 | 2 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0005c0005 | 0/0 | 2250 | 4 | 0 | 0 | 4 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0006c0007 | 0/0 | 2250 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0007c0009 | 0/0 | 2250 | 2 | 1 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0008c0010 | 0/0 | 2250 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0009c0011 | 0/0 | 2251 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0010c0012 | 0/0 | 2250 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0011c0013 | 0/0 | 2249 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0012c0016 | 0/0 | 2251 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0013c0014 | 0/0 | 2249 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 3258 | 64 | 19 | 11 | 24 | 4 | 5 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0002 | 0/0 | 3262 | 10 | 4 | 2 | 0 | 0 | 4 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0003 | 0/0 | 3268 | 23 | 1 | 3 | 16 | 1 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0004 | 0/0 | 3260 | 17 | 1 | 4 | 7 | 0 | 5 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0005 | 0/0 | 3266 | 15 | 0 | 0 | 15 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0006 | 0/0 | 3270 | 6 | 4 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0007 | 0/0 | 3264 | 2 | 1 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0008 | 0/0 | 3258 | 5 | 5 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0009 | 0/0 | 3262 | 5 | 3 | 2 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0010 | 0/0 | 3272 | 3 | 2 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0011 | 0/0 | 3266 | 3 | 1 | 0 | 1 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0012 | 0/0 | 3258 | 2 | 2 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0013 | 1/0 | 3257 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0015 | 0/0 | 3263 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0018 | 0/0 | 3264 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0019 | 0/0 | 3258 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0020 | 0/0 | 3259 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0021 | 0/0 | 3256 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0022 | 0/0 | 3254 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0001t0024 | 0/0 | 3266 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0006t0001 | 0/0 | 3258 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0006t0006 | 0/0 | 3270 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0001c0015t0003 | 0/0 | 3268 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0002c0002t0002 | 0/0 | 3262 | 11 | 3 | 7 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0002c0002t0004 | 0/0 | 3260 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0002c0002t0007 | 0/0 | 3264 | 5 | 0 | 2 | 3 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0002c0008t0004 | 0/0 | 3260 | 2 | 0 | 0 | 2 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0003c0003t0002 | 0/0 | 3262 | 12 | 1 | 9 | 0 | 0 | 2 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0004c0004t0001 | 0/0 | 3258 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0004c0004t0002 | 0/0 | 3262 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0004c0004t0004 | 0/0 | 3260 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0005c0005t0001 | 0/0 | 3258 | 4 | 0 | 0 | 4 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0006c0007t0002 | 0/0 | 3262 | 3 | 3 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0007c0009t0003 | 0/0 | 3268 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0007c0009t0017 | 0/0 | 3266 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0008c0010t0003 | 0/0 | 3268 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0008c0010t0006 | 0/0 | 3270 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0009c0011t0014 | 0/0 | 3270 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0010c0012t0001 | 0/0 | 3258 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0011c0013t0016 | 0/0 | 3258 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0012c0016t0003 | 0/0 | 3269 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| a0013c0014t0023 | 0/0 | 3257 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | copy fasta | chrX | 44142872 | 44348672 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0112 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0003g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0004g0210 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0005g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0006g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0007g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0007g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0008g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0009g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0010g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0010g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0010g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0011g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0011g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0011g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0012g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0012g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0013g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0015g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0018g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0019g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0020g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0021g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0022g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0001t0024g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0006t0006g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0001c0015t0003g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0004g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0004g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0002t0007g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0008t0004g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0002c0008t0004g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0003c0003t0002g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0004c0004t0004g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0005c0005t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0006c0007t0002g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0006c0007t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0006c0007t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0007c0009t0003g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0007c0009t0017g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0008c0010t0003g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0008c0010t0006g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0009c0011t0014g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0010c0012t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0011c0013t0016g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0012c0016t0003g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| a0013c0014t0023g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0151 | EUR | GBR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0177 | EUR | FIN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00438 | hp1 | a0002 | c0002 | t0007 | g0217 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00438 | hp2 | a0001 | c0001 | t0005 | g0110 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00558 | hp2 | a0001 | c0001 | t0019 | g0067 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00621 | hp1 | a0007 | c0009 | t0003 | g0117 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0098 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00673 | hp1 | a0001 | c0001 | t0004 | g0161 | EAS | CHS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00738 | hp1 | a0004 | c0004 | t0001 | g0021 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00741 | hp1 | a0001 | c0001 | t0003 | g0165 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG00741 | hp2 | a0001 | c0001 | t0009 | g0179 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01070 | hp1 | a0003 | c0003 | t0002 | g0186 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01070 | hp2 | a0001 | c0001 | t0009 | g0158 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0145 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01071 | hp2 | a0003 | c0003 | t0002 | g0187 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01074 | hp1 | a0002 | c0002 | t0002 | g0014 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01081 | hp1 | a0003 | c0003 | t0002 | g0061 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0097 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0189 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01109 | hp1 | a0002 | c0002 | t0002 | g0090 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0123 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01168 | hp2 | a0001 | c0015 | t0003 | g0047 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01169 | hp1 | a0001 | c0001 | t0003 | g0037 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0168 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01243 | hp1 | a0001 | c0001 | t0018 | g0019 | AMR | PUR | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01256 | hp1 | a0002 | c0002 | t0007 | g0155 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01261 | hp1 | a0001 | c0001 | t0004 | g0066 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01358 | hp1 | a0002 | c0002 | t0002 | g0164 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01361 | hp1 | a0004 | c0004 | t0004 | g0133 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01361 | hp2 | a0001 | c0001 | t0004 | g0094 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01433 | hp1 | a0001 | c0001 | t0004 | g0150 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01496 | hp1 | a0003 | c0003 | t0002 | g0060 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01496 | hp2 | a0001 | c0001 | t0004 | g0142 | AMR | CLM | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01515 | hp1 | a0001 | c0001 | t0003 | g0184 | EUR | IBS | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01928 | hp1 | a0003 | c0003 | t0002 | g0120 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01934 | hp1 | a0002 | c0002 | t0002 | g0077 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01943 | hp1 | a0003 | c0003 | t0002 | g0059 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01952 | hp1 | a0002 | c0002 | t0002 | g0062 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01975 | hp1 | a0003 | c0003 | t0002 | g0054 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01975 | hp2 | a0002 | c0002 | t0007 | g0166 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01978 | hp1 | a0002 | c0002 | t0002 | g0181 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01978 | hp2 | a0001 | c0001 | t0007 | g0124 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01981 | hp1 | a0001 | c0001 | t0003 | g0046 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG01981 | hp2 | a0003 | c0003 | t0002 | g0109 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02004 | hp1 | a0002 | c0002 | t0002 | g0140 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02015 | hp1 | a0001 | c0001 | t0003 | g0088 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0215 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02056 | hp1 | a0001 | c0001 | t0004 | g0092 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02071 | hp1 | a0001 | c0001 | t0004 | g0162 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02074 | hp1 | a0002 | c0002 | t0004 | g0209 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02083 | hp1 | a0001 | c0001 | t0004 | g0139 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02148 | hp1 | a0003 | c0003 | t0002 | g0057 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02148 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | PEL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02155 | hp2 | a0001 | c0001 | t0010 | g0135 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02165 | hp2 | a0002 | c0002 | t0007 | g0216 | EAS | CDX | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02257 | hp1 | a0007 | c0009 | t0017 | g0176 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02257 | hp2 | a0001 | c0001 | t0009 | g0009 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02280 | hp1 | a0001 | c0001 | t0010 | g0073 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02280 | hp2 | a0001 | c0006 | t0001 | g0029 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02451 | hp1 | a0001 | c0001 | t0009 | g0198 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02451 | hp2 | a0001 | c0006 | t0001 | g0018 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02523 | hp2 | a0001 | c0001 | t0003 | g0174 | EAS | KHV | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02572 | hp1 | a0006 | c0007 | t0002 | g0026 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02602 | hp1 | a0001 | c0001 | t0004 | g0210 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02615 | hp1 | a0001 | c0001 | t0006 | g0036 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0103 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02630 | hp1 | a0001 | c0001 | t0004 | g0105 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0195 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02647 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02683 | hp1 | a0001 | c0001 | t0003 | g0147 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02683 | hp2 | a0001 | c0001 | t0004 | g0175 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0101 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02717 | hp1 | a0001 | c0001 | t0008 | g0031 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0104 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02723 | hp2 | a0001 | c0001 | t0006 | g0078 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02735 | hp1 | a0003 | c0003 | t0002 | g0020 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0185 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02809 | hp1 | a0004 | c0004 | t0002 | g0027 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02809 | hp2 | a0001 | c0001 | t0008 | g0041 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02818 | hp2 | a0006 | c0007 | t0002 | g0025 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0081 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02886 | hp2 | a0001 | c0001 | t0006 | g0023 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02895 | hp1 | a0002 | c0002 | t0002 | g0080 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02896 | hp1 | a0001 | c0001 | t0009 | g0007 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02896 | hp2 | a0001 | c0001 | t0012 | g0032 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02897 | hp1 | a0002 | c0002 | t0002 | g0079 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02897 | hp2 | a0001 | c0001 | t0012 | g0033 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0211 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02970 | hp1 | a0001 | c0006 | t0006 | g0106 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02970 | hp2 | a0002 | c0002 | t0002 | g0201 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0045 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03041 | hp1 | a0004 | c0004 | t0002 | g0022 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03041 | hp2 | a0001 | c0001 | t0003 | g0016 | AFR | GWD | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03098 | hp1 | a0001 | c0001 | t0008 | g0202 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03130 | hp1 | a0006 | c0007 | t0002 | g0203 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0099 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0200 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03195 | hp2 | a0001 | c0001 | t0008 | g0035 | AFR | ESN | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03209 | hp1 | a0001 | c0001 | t0007 | g0115 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0107 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03486 | hp1 | a0001 | c0006 | t0001 | g0030 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03490 | hp1 | a0001 | c0001 | t0002 | g0064 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0082 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0038 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0053 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03688 | hp1 | a0001 | c0001 | t0003 | g0183 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03710 | hp1 | a0001 | c0001 | t0004 | g0050 | SAS | PJL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0096 | SAS | BEB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03831 | hp2 | a0001 | c0001 | t0020 | g0102 | SAS | BEB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0180 | SAS | BEB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04115 | hp1 | a0001 | c0001 | t0004 | g0108 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04199 | hp1 | a0001 | c0001 | t0004 | g0063 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04204 | hp1 | a0003 | c0003 | t0002 | g0100 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0065 | SAS | STU | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | YRI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18612 | hp1 | a0005 | c0005 | t0001 | g0126 | EAS | CHB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18747 | hp1 | a0001 | c0001 | t0011 | g0048 | EAS | CHB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18939 | hp1 | a0001 | c0001 | t0003 | g0218 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18939 | hp2 | a0002 | c0002 | t0007 | g0118 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18940 | hp1 | a0001 | c0001 | t0005 | g0004 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18943 | hp1 | a0002 | c0008 | t0004 | g0128 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18945 | hp1 | a0001 | c0001 | t0005 | g0173 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18952 | hp1 | a0001 | c0001 | t0003 | g0122 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18953 | hp1 | a0001 | c0001 | t0003 | g0220 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18957 | hp2 | a0002 | c0002 | t0002 | g0190 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18959 | hp1 | a0001 | c0001 | t0003 | g0051 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18960 | hp1 | a0001 | c0001 | t0003 | g0188 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18961 | hp1 | a0001 | c0001 | t0005 | g0219 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18962 | hp1 | a0001 | c0001 | t0006 | g0043 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18966 | hp1 | a0001 | c0001 | t0003 | g0138 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18967 | hp1 | a0009 | c0011 | t0014 | g0002 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18969 | hp1 | a0001 | c0001 | t0005 | g0178 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18969 | hp2 | a0001 | c0001 | t0003 | g0208 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18970 | hp1 | a0010 | c0012 | t0001 | g0071 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18974 | hp1 | a0013 | c0014 | t0023 | g0191 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18977 | hp1 | a0001 | c0001 | t0005 | g0169 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18981 | hp1 | a0001 | c0001 | t0003 | g0127 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18981 | hp2 | a0001 | c0001 | t0005 | g0091 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18983 | hp1 | a0008 | c0010 | t0003 | g0172 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18984 | hp1 | a0001 | c0001 | t0003 | g0136 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18985 | hp1 | a0008 | c0010 | t0006 | g0163 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18988 | hp1 | a0001 | c0001 | t0005 | g0083 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18990 | hp1 | a0005 | c0005 | t0001 | g0144 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18994 | hp1 | a0002 | c0002 | t0004 | g0207 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19004 | hp1 | a0005 | c0005 | t0001 | g0143 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19005 | hp1 | a0002 | c0008 | t0004 | g0055 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19006 | hp1 | a0001 | c0001 | t0003 | g0119 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0069 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19009 | hp1 | a0001 | c0001 | t0004 | g0134 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19010 | hp1 | a0001 | c0001 | t0005 | g0213 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19010 | hp2 | a0001 | c0001 | t0006 | g0170 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19012 | hp1 | a0001 | c0001 | t0004 | g0044 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19030 | hp1 | a0001 | c0001 | t0011 | g0011 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19030 | hp2 | a0001 | c0001 | t0002 | g0197 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0034 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19055 | hp1 | a0011 | c0013 | t0016 | g0157 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19056 | hp1 | a0001 | c0001 | t0004 | g0156 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19058 | hp1 | a0001 | c0001 | t0005 | g0121 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19062 | hp1 | a0001 | c0001 | t0005 | g0084 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19063 | hp1 | a0001 | c0001 | t0005 | g0192 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19066 | hp1 | a0001 | c0001 | t0003 | g0204 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19067 | hp1 | a0012 | c0016 | t0003 | g0182 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19068 | hp1 | a0001 | c0001 | t0005 | g0149 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19070 | hp1 | a0001 | c0001 | t0021 | g0131 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19072 | hp1 | a0005 | c0005 | t0001 | g0056 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19075 | hp1 | a0001 | c0001 | t0015 | g0003 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19079 | hp1 | a0001 | c0001 | t0003 | g0154 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19080 | hp2 | a0001 | c0001 | t0005 | g0212 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19085 | hp1 | a0001 | c0001 | t0003 | g0141 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19088 | hp1 | a0001 | c0001 | t0005 | g0039 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0068 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19240 | hp1 | a0001 | c0001 | t0008 | g0199 | AFR | YRI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA19240 | hp2 | a0004 | c0004 | t0002 | g0028 | AFR | YRI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20129 | hp1 | a0001 | c0001 | t0006 | g0005 | AFR | ASW | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20129 | hp2 | a0003 | c0003 | t0002 | g0058 | AFR | ASW | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0111 | EUR | TSI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0013 | EUR | TSI | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA20905 | hp1 | a0001 | c0001 | t0011 | g0049 | SAS | GIH | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0160 | AFR | ACB | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0085 | AFR | MSL | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0194 | AFR | USA | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| HG06807 | hp2 | a0001 | c0001 | t0024 | g0221 | AFR | USA | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA18955 | hp1 | a0001 | c0001 | t0003 | g0171 | EAS | JPT | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA21309 | hp1 | a0001 | c0001 | t0022 | g0042 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| NA21309 | hp2 | a0001 | c0001 | t0010 | g0193 | AFR | LWK | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0112 | REF | REF | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0013 | g0001 | REF | REF | EFHC2_chrX_44142872_44348672 | EFHC2 | chrX | 44142872 | 44348672 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44147873
|
TC | T | 1 | a0011 | 1 | NA19055.hp1 | splice_region_variant | LOW | c.*921delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | chrX | 44147873 | ||||||
| chrX:44148820
|
TC | T | 1 | a0013 | 1 | NA18974.hp1 | frameshift_variant | HIGH | c.2224delG | p.Asp742fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 2308/3257 | 2224/2250 | 742/749 | chrX | 44148820 | ||
| chrX:44148853
|
G | A | 1 | a0006 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
missense_variant | MODERATE | c.2192C>T | p.Ala731Val | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 2276/3257 | 2192/2250 | 731/749 | chrX | 44148853 | ||
| chrX:44232582
|
C | G | 1 | a0005 | 4 | NA18612.hp1 NA18990.hp1 NA19004.hp1 others(1): Show |
missense_variant | MODERATE | c.1519G>C | p.Glu507Gln | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/15 | 1603/3257 | 1519/2250 | 507/749 | chrX | 44232582 | ||
| chrX:44232644
|
C | T | 1 | a0008 | 2 | NA18983.hp1 NA18985.hp1 |
missense_variant | MODERATE | c.1457G>A | p.Arg486His | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/15 | 1541/3257 | 1457/2250 | 486/749 | chrX | 44232644 | ||
| chrX:44235372
|
C | T | 1 | a0007 | 2 | HG00621.hp1 HG02257.hp1 |
missense_variant | MODERATE | c.1356G>A | p.Met452Ile | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1440/3257 | 1356/2250 | 452/749 | chrX | 44235372 | ||
| chrX:44235413
|
C | CA | 1 | a0012 | 1 | NA19067.hp1 | frameshift_variant | HIGH | c.1314dupT | p.Ala439fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1398/3257 | 1314/2250 | 438/749 | chrX | 44235413 | ||
| chrX:44235439
|
G | T | 3 | a0002a0003a0013 | 33 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(30): Show |
missense_variant | MODERATE | c.1289C>A | p.Ser430Tyr | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1373/3257 | 1289/2250 | 430/749 | chrX | 44235439 | ||
| chrX:44242149
|
TC | T | 1 | a0011 | 1 | NA19055.hp1 | frameshift_variant | HIGH | c.1251delG | p.Asn418fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/15 | 1335/3257 | 1251/2250 | 417/749 | chrX | 44242149 | ||
| chrX:44248356
|
T | TG | 1 | a0011 | 1 | NA19055.hp1 | frameshift_variant | HIGH | c.1026dupC | p.Thr343fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/15 | 1110/3257 | 1026/2250 | 342/749 | chrX | 44248356 | ||
| chrX:44248892
|
GT | G | 1 | a0011 | 1 | NA19055.hp1 | frameshift_variant | HIGH | c.882delA | p.Gln294fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 6/15 | 966/3257 | 882/2250 | 294/749 | chrX | 44248892 | ||
| chrX:44248908
|
T | TG | 1 | a0011 | 1 | NA19055.hp1 | frameshift_variant | HIGH | c.866dupC | p.Pro290fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 6/15 | 950/3257 | 866/2250 | 289/749 | chrX | 44248908 | ||
| chrX:44250277
|
T | TA | 1 | a0011 | 1 | NA19055.hp1 | frameshift_variant | HIGH | c.774dupT | p.Thr259fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/15 | 858/3257 | 774/2250 | 258/749 | chrX | 44250277 | ||
| chrX:44250379
|
A | T | 1 | a0011 | 1 | NA19055.hp1 | missense_variant | MODERATE | c.673T>A | p.Tyr225Asn | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/15 | 757/3257 | 673/2250 | 225/749 | chrX | 44250379 | ||
| chrX:44250384
|
AG | A | 1 | a0011 | 1 | NA19055.hp1 | frameshift_variant | HIGH | c.667delC | p.Leu223fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/15 | 751/3257 | 667/2250 | 223/749 | chrX | 44250384 | ||
| chrX:44250442
|
CA | C | 1 | a0011 | 1 | NA19055.hp1 | frameshift_variant&splice_region_variant | HIGH | c.609delT | p.Val204fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/15 | 693/3257 | 609/2250 | 203/749 | chrX | 44250442 | ||
| chrX:44261283
|
C | T | 1 | a0010 | 1 | NA18970.hp1 | missense_variant | MODERATE | c.398G>A | p.Arg133His | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/15 | 482/3257 | 398/2250 | 133/749 | chrX | 44261283 | ||
| chrX:44312629
|
C | T | 1 | a0004 | 5 | HG00738.hp1 HG01361.hp1 HG02809.hp1 others(2): Show |
missense_variant | MODERATE | c.170G>A | p.Cys57Tyr | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/15 | 254/3257 | 170/2250 | 57/749 | chrX | 44312629 | ||
| chrX:44312707
|
T | C | 1 | a0003 | 12 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
missense_variant | MODERATE | c.92A>G | p.Asn31Ser | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/15 | 176/3257 | 92/2250 | 31/749 | chrX | 44312707 | ||
| chrX:44343553
|
G | GT | 1 | a0009 | 1 | NA18967.hp1 | frameshift_variant | HIGH | c.35dupA | p.Asn12fs | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/15 | 119/3257 | 35/2250 | 12/749 | chrX | 44343553 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44178441
|
G | A | 1 | a0001c0015 | 1 | HG01168.hp2 | synonymous_variant | LOW | c.1875C>T | p.His625His | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/15 | 1959/3257 | 1875/2250 | 625/749 | chrX | 44178441 | ||
| chrX:44235384
|
G | A | 1 | a0001c0006 | 4 | HG02280.hp2 HG02451.hp2 HG02970.hp1 others(1): Show |
synonymous_variant | LOW | c.1344C>T | p.Asp448Asp | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/15 | 1428/3257 | 1344/2250 | 448/749 | chrX | 44235384 | ||
| chrX:44312643
|
C | T | 1 | a0002c0008 | 2 | NA18943.hp1 NA19005.hp1 |
synonymous_variant | LOW | c.156G>A | p.Lys52Lys | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/15 | 240/3257 | 156/2250 | 52/749 | chrX | 44312643 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44147903
|
CA | C | 1 | a0013c0014t0023 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*891delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 891 | chrX | 44147903 | |||||
| chrX:44147965
|
C | T | 1 | a0007c0009t0017 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*830G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 830 | chrX | 44147965 | |||||
| chrX:44148041
|
C | CA | 1 | a0001c0001t0020 | 1 | HG03831.hp2 | 3_prime_UTR_variant | MODIFIER | c.*753dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 753 | chrX | 44148041 | |||||
| chrX:44148073
|
C | CT | 1 | a0011c0013t0016 | 1 | NA19055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*721dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 721 | chrX | 44148073 | |||||
| chrX:44148123
|
A | G | 1 | a0001c0001t0019 | 1 | HG00558.hp2 | 3_prime_UTR_variant | MODIFIER | c.*672T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 672 | chrX | 44148123 | |||||
| chrX:44148171
|
T | C | 1 | a0001c0001t0009 | 5 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*624A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 624 | chrX | 44148171 | |||||
| chrX:44148213
|
C | T | 1 | a0001c0001t0012 | 2 | HG02896.hp2 HG02897.hp2 |
3_prime_UTR_variant | MODIFIER | c.*582G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 582 | chrX | 44148213 | |||||
| chrX:44148226
|
C | CGTGTGT | 2 | a0001c0001t0015a0001c0001t0018 | 2 | HG01243.hp1 NA19075.hp1 |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | |||||
| chrX:44148226
|
C | CGTGTGTG others(1): Show |
3 | a0001c0001t0011a0001c0001t0024a0007c0009t0017 | 5 | HG02257.hp1 HG06807.hp2 NA18747.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | |||||
| chrX:44148226
|
C | CGTGTGTG others(3): Show |
6 | a0001c0001t0003a0001c0015t0003a0007c0009t0003others(3): Show | 28 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(25): Show |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | |||||
| chrX:44148226
|
C | CGTGTGTG others(5): Show |
3 | a0001c0001t0006a0001c0006t0006a0008c0010t0006 | 8 | HG02615.hp1 HG02723.hp2 HG02886.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | |||||
| chrX:44148226
|
C | CGTGTGTG others(7): Show |
1 | a0001c0001t0010 | 3 | HG02155.hp2 HG02280.hp1 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*568_*569insACACAC others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 568 | chrX | 44148226 | |||||
| chrX:44148230
|
C | CGT | 5 | a0001c0001t0004a0002c0002t0004a0002c0008t0004others(2): Show | 23 | HG00673.hp1 HG01261.hp1 HG01361.hp1 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*563_*564dupAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | |||||
| chrX:44148230
|
C | CGTGT | 6 | a0001c0001t0002a0001c0001t0009a0002c0002t0002others(3): Show | 44 | HG00642.hp1 HG00741.hp2 HG01070.hp1 others(41): Show |
3_prime_UTR_variant | MODIFIER | c.*561_*564dupACAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | |||||
| chrX:44148230
|
C | CGTGTGT | 2 | a0001c0001t0007a0002c0002t0007 | 7 | HG00438.hp1 HG01256.hp1 HG01975.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*559_*564dupACACAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | |||||
| chrX:44148230
|
C | CGTGTGTG others(1): Show |
1 | a0001c0001t0005 | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*557_*564dupACACAC others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 564 | chrX | 44148230 | |||||
| chrX:44148230
|
C | T | 15 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(12): Show | 46 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*565G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 565 | chrX | 44148230 | |||||
| chrX:44148230
|
CGT | C | 1 | a0001c0001t0021 | 1 | NA19070.hp1 | 3_prime_UTR_variant | MODIFIER | c.*563_*564delAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 563 | chrX | 44148230 | |||||
| chrX:44148230
|
CGTGT | C | 1 | a0001c0001t0022 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*561_*564delACAC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 561 | chrX | 44148230 | |||||
| chrX:44148348
|
G | GT | 1 | a0011c0013t0016 | 1 | NA19055.hp1 | 3_prime_UTR_variant | MODIFIER | c.*446dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 446 | chrX | 44148348 | |||||
| chrX:44148364
|
AT | A | 1 | a0013c0014t0023 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*430delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 430 | chrX | 44148364 | |||||
| chrX:44148386
|
C | CA | 1 | a0013c0014t0023 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*408dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 408 | chrX | 44148386 | |||||
| chrX:44148704
|
CT | C | 1 | a0013c0014t0023 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*90delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 90 | chrX | 44148704 | |||||
| chrX:44148765
|
A | C | 1 | a0001c0001t0008 | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*30T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 15/15 | 30 | chrX | 44148765 | |||||
| chrX:44343615
|
TC | T | 1 | a0001c0001t0015 | 1 | NA19075.hp1 | 5_prime_UTR_variant | MODIFIER | c.-28delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/15 | 28 | chrX | 44343615 | |||||
| chrX:44343626
|
A | AG | 1 | a0009c0011t0014 | 1 | NA18967.hp1 | 5_prime_UTR_variant | MODIFIER | c.-39dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/15 | 39 | chrX | 44343626 | |||||
| chrX:44343633
|
G | A | 1 | a0001c0001t0024 | 1 | HG06807.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-45C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/15 | chrX | 44343633 | ||||||
| chrX:44343644
|
G | GC | 41 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | 220 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(217): Show |
5_prime_UTR_variant | MODIFIER | c.-57dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/15 | 57 | chrX | 44343644 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:44149116
|
T | C | 133 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(130): Show | 133 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(130): Show |
intron_variant | MODIFIER | c.2149-220A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149116 | ||||||
| chrX:44149225
|
G | A | 2 | a0001c0001t0001g0086a0001c0001t0001g0114 | 2 | NA19000.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.2149-329C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149225 | ||||||
| chrX:44149428
|
G | T | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2149-532C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149428 | ||||||
| chrX:44149462
|
T | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2149-566A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149462 | ||||||
| chrX:44149510
|
AT | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2149-615delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149510 | ||||||
| chrX:44149673
|
GC | G | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-778delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149673 | ||||||
| chrX:44149717
|
AG | A | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-822delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149717 | ||||||
| chrX:44149759
|
A | C | 75 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(72): Show | 75 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.2149-863T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149759 | ||||||
| chrX:44149937
|
T | TTG | 1 | a0008c0010t0006g0163 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.2149-1043_2149-104 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149937 | ||||||
| chrX:44149964
|
C | G | 1 | a0001c0001t0004g0175 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2149-1068G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44149964 | ||||||
| chrX:44150411
|
C | T | 203 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(200): Show | 203 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(200): Show |
intron_variant | MODIFIER | c.2149-1515G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44150411 | ||||||
| chrX:44150751
|
A | T | 2 | a0003c0003t0002g0186a0003c0003t0002g0187 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.2149-1855T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44150751 | ||||||
| chrX:44150861
|
T | TG | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-1966dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44150861 | ||||||
| chrX:44150998
|
AG | A | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-2103delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44150998 | ||||||
| chrX:44151037
|
G | A | 27 | a0001c0001t0002g0064a0001c0001t0002g0082a0001c0001t0002g0096others(24): Show | 27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.2149-2141C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151037 | ||||||
| chrX:44151207
|
T | TA | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-2312dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151207 | ||||||
| chrX:44151572
|
A | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2149-2676T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151572 | ||||||
| chrX:44151729
|
A | AG | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-2834dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151729 | ||||||
| chrX:44151781
|
A | T | 9 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(6): Show | 9 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.2149-2885T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44151781 | ||||||
| chrX:44152016
|
T | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2149-3120A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152016 | ||||||
| chrX:44152228
|
AC | A | 2 | a0011c0013t0016g0157a0013c0014t0023g0191 | 2 | NA18974.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.2149-3333delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152228 | ||||||
| chrX:44152338
|
CCTGGATT others(2): Show |
C | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-3451_2149-344 others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152338 | ||||||
| chrX:44152667
|
G | A | 7 | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0009g0007others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2149-3771C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152667 | ||||||
| chrX:44152725
|
T | TAC | 12 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(9): Show | 12 | HG02083.hp1 HG02129.hp1 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.2149-3831_2149-383 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152725
|
T | TACAC | 53 | a0001c0001t0001g0076a0001c0001t0003g0016a0001c0001t0003g0046others(50): Show | 53 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(50): Show |
intron_variant | MODIFIER | c.2149-3833_2149-383 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152725
|
T | TACACAC | 6 | a0001c0001t0003g0183a0001c0001t0006g0005a0001c0001t0006g0078others(3): Show | 6 | HG01243.hp1 HG02723.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2149-3835_2149-383 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152725
|
T | TACACACA others(5): Show |
1 | a0001c0001t0006g0023 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2149-3841_2149-383 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152725
|
TAC | T | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 HG00738.hp1 NA18940.hp1 others(12): Show |
intron_variant | MODIFIER | c.2149-3831_2149-383 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152725
|
TACAC | T | 26 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0012others(23): Show | 26 | HG01169.hp1 HG01255.hp1 HG02055.hp1 others(23): Show |
intron_variant | MODIFIER | c.2149-3833_2149-383 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152725
|
TACACAC | T | 38 | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0002g0064others(35): Show | 38 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(35): Show |
intron_variant | MODIFIER | c.2149-3835_2149-383 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152725
|
TACACACA others(1): Show |
T | 2 | a0001c0001t0001g0195a0001c0001t0001g0196 | 2 | HG02630.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.2149-3837_2149-383 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152725 | ||||||
| chrX:44152756
|
A | ACACAC | 1 | a0001c0001t0001g0103 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2149-3861_2149-386 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152756 | ||||||
| chrX:44152759
|
A | T | 1 | a0002c0002t0007g0217 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2149-3863T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44152759 | ||||||
| chrX:44153694
|
C | T | 2 | a0005c0005t0001g0056a0005c0005t0001g0126 | 2 | NA18612.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.2149-4798G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44153694 | ||||||
| chrX:44153942
|
T | C | 42 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0001g0194others(39): Show | 42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2149-5046A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44153942 | ||||||
| chrX:44154013
|
A | AC | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-5118dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44154013 | ||||||
| chrX:44154458
|
T | TG | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2149-5563dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44154458 | ||||||
| chrX:44154542
|
G | GA | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2149-5647dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44154542 | ||||||
| chrX:44154559
|
C | T | 1 | a0001c0001t0001g0206 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2149-5663G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44154559 | ||||||
| chrX:44155506
|
G | A | 1 | a0001c0001t0004g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2149-6610C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44155506 | ||||||
| chrX:44156268
|
T | G | 65 | a0001c0001t0002g0038a0001c0001t0003g0016a0001c0001t0003g0037others(62): Show | 65 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(62): Show |
intron_variant | MODIFIER | c.2149-7372A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156268 | ||||||
| chrX:44156281
|
G | A | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2149-7385C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156281 | ||||||
| chrX:44156408
|
G | A | 1 | a0001c0001t0001g0040 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2149-7512C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156408 | ||||||
| chrX:44156602
|
A | T | 34 | a0001c0001t0003g0046a0001c0001t0003g0051a0001c0001t0003g0088others(31): Show | 34 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(31): Show |
intron_variant | MODIFIER | c.2148+7320T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156602 | ||||||
| chrX:44156751
|
A | AT | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2148+7170dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156751 | ||||||
| chrX:44156869
|
TG | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2148+7052delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156869 | ||||||
| chrX:44156978
|
T | G | 74 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(71): Show | 74 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(71): Show |
intron_variant | MODIFIER | c.2148+6944A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44156978 | ||||||
| chrX:44157002
|
G | GGGA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2148+6917_2148+691 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157002 | ||||||
| chrX:44157054
|
A | C | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2148+6868T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157054 | ||||||
| chrX:44157648
|
T | C | 17 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(14): Show | 17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.2148+6274A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157648 | ||||||
| chrX:44157685
|
T | TC | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2148+6236dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157685 | ||||||
| chrX:44157750
|
C | CCCACCA | 5 | a0001c0001t0007g0124a0002c0002t0007g0118a0002c0002t0007g0155others(2): Show | 5 | HG00438.hp1 HG01256.hp1 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.2148+6171_2148+617 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157750 | ||||||
| chrX:44157750
|
C | CCCGCCA | 126 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(123): Show | 126 | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(123): Show |
intron_variant | MODIFIER | c.2148+6171_2148+617 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44157750 | ||||||
| chrX:44158059
|
T | C | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2148+5863A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158059 | ||||||
| chrX:44158123
|
G | A | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2148+5799C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158123 | ||||||
| chrX:44158225
|
C | G | 1 | a0001c0001t0019g0067 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2148+5697G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158225 | ||||||
| chrX:44158516
|
CA | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.2148+5405delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158516 | ||||||
| chrX:44158586
|
T | A | 15 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(12): Show | 15 | HG01081.hp1 HG01361.hp1 HG01496.hp1 others(12): Show |
intron_variant | MODIFIER | c.2148+5336A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158586 | ||||||
| chrX:44158842
|
A | T | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.2148+5080T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158842 | ||||||
| chrX:44158968
|
T | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2148+4954A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44158968 | ||||||
| chrX:44159113
|
G | A | 3 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101 | 3 | HG02698.hp1 HG03492.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.2148+4809C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159113 | ||||||
| chrX:44159134
|
A | G | 204 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(201): Show | 204 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.2148+4788T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159134 | ||||||
| chrX:44159195
|
TC | T | 1 | a0002c0002t0002g0190 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.2148+4726delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159195 | ||||||
| chrX:44159275
|
G | A | 1 | a0001c0001t0001g0200 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2148+4647C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159275 | ||||||
| chrX:44159630
|
G | C | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2148+4292C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44159630 | ||||||
| chrX:44160058
|
G | A | 2 | a0001c0001t0001g0053a0001c0001t0004g0063 | 2 | HG03654.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.2148+3864C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160058 | ||||||
| chrX:44160151
|
C | T | 2 | a0001c0001t0001g0085a0001c0001t0004g0105 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2148+3771G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160151 | ||||||
| chrX:44160474
|
G | GA | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2148+3447dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160474 | ||||||
| chrX:44160606
|
C | T | 3 | a0001c0001t0002g0081a0001c0001t0002g0107a0001c0001t0002g0197 | 3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2148+3316G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160606 | ||||||
| chrX:44160650
|
G | A | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2148+3272C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160650 | ||||||
| chrX:44160703
|
C | T | 7 | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0009g0007others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2148+3219G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160703 | ||||||
| chrX:44160727
|
G | A | 33 | a0001c0001t0003g0046a0001c0001t0003g0088a0001c0001t0003g0119others(30): Show | 33 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(30): Show |
intron_variant | MODIFIER | c.2148+3195C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160727 | ||||||
| chrX:44160791
|
G | A | 1 | a0001c0001t0003g0138 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.2148+3131C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160791 | ||||||
| chrX:44160921
|
CA | C | 4 | a0001c0001t0001g0085a0001c0001t0003g0220a0001c0001t0004g0105others(1): Show | 4 | HG01168.hp2 HG02630.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2148+3000delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44160921 | ||||||
| chrX:44161101
|
C | T | 1 | a0001c0001t0021g0131 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.2148+2821G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161101 | ||||||
| chrX:44161103
|
C | A | 1 | a0001c0001t0001g0085 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2148+2819G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161103 | ||||||
| chrX:44161415
|
C | T | 4 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(1): Show | 4 | HG02004.hp2 HG02148.hp2 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.2148+2507G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161415 | ||||||
| chrX:44161631
|
C | T | 1 | a0001c0001t0018g0019 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.2148+2291G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44161631 | ||||||
| chrX:44162279
|
T | C | 116 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(113): Show | 116 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(113): Show |
intron_variant | MODIFIER | c.2148+1643A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162279 | ||||||
| chrX:44162437
|
T | C | 2 | a0001c0001t0001g0075a0001c0001t0001g0087 | 2 | NA18986.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.2148+1485A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162437 | ||||||
| chrX:44162598
|
T | A | 2 | a0001c0001t0003g0136a0001c0001t0003g0171 | 2 | NA18955.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.2148+1324A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162598 | ||||||
| chrX:44162766
|
T | TC | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.2148+1155dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162766 | ||||||
| chrX:44162874
|
G | A | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2148+1048C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162874 | ||||||
| chrX:44162974
|
G | T | 1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2148+948C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44162974 | ||||||
| chrX:44163631
|
T | C | 5 | a0001c0001t0009g0007a0001c0001t0009g0009a0001c0001t0009g0158others(2): Show | 5 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.2148+291A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44163631 | ||||||
| chrX:44163689
|
C | T | 1 | a0001c0001t0021g0131 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.2148+233G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 14/14 | chrX | 44163689 | ||||||
| chrX:44164163
|
T | G | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2043-136A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164163 | ||||||
| chrX:44164301
|
C | T | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2043-274G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164301 | ||||||
| chrX:44164302
|
G | A | 1 | a0001c0001t0004g0105 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2043-275C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164302 | ||||||
| chrX:44164917
|
C | A | 3 | a0005c0005t0001g0143a0005c0005t0001g0144a0010c0012t0001g0071 | 3 | NA18970.hp1 NA18990.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.2043-890G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44164917 | ||||||
| chrX:44165187
|
A | T | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2043-1160T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44165187 | ||||||
| chrX:44165766
|
T | C | 1 | a0001c0001t0011g0049 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2043-1739A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44165766 | ||||||
| chrX:44166220
|
C | T | 40 | a0001c0001t0003g0016a0001c0001t0003g0046a0001c0001t0003g0051others(37): Show | 40 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(37): Show |
intron_variant | MODIFIER | c.2043-2193G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166220 | ||||||
| chrX:44166444
|
C | G | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2043-2417G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166444 | ||||||
| chrX:44166910
|
T | A | 42 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0001g0194others(39): Show | 42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2043-2883A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166910 | ||||||
| chrX:44166922
|
C | G | 1 | a0001c0001t0001g0010 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2043-2895G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44166922 | ||||||
| chrX:44167622
|
G | GA | 1 | a0001c0001t0001g0125 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2043-3596dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167622 | ||||||
| chrX:44167714
|
C | T | 220 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(217): Show | 220 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(217): Show |
intron_variant | MODIFIER | c.2043-3687G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167714 | ||||||
| chrX:44167727
|
G | A | 3 | a0001c0001t0002g0081a0001c0001t0002g0107a0001c0001t0002g0197 | 3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2043-3700C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167727 | ||||||
| chrX:44167990
|
A | C | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2043-3963T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167990 | ||||||
| chrX:44167996
|
C | T | 2 | a0001c0001t0003g0016a0001c0001t0011g0011 | 2 | HG03041.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2043-3969G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44167996 | ||||||
| chrX:44168082
|
C | G | 1 | a0001c0001t0006g0078 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2043-4055G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168082 | ||||||
| chrX:44168221
|
C | CG | 2 | a0001c0001t0009g0007a0001c0001t0009g0009 | 2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2043-4195dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168221 | ||||||
| chrX:44168299
|
G | A | 42 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0001g0194others(39): Show | 42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2043-4272C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168299 | ||||||
| chrX:44168388
|
T | C | 7 | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0009g0007others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2043-4361A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168388 | ||||||
| chrX:44168396
|
T | G | 1 | a0004c0004t0001g0021 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.2043-4369A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168396 | ||||||
| chrX:44168463
|
C | T | 2 | a0001c0001t0001g0145a0001c0001t0001g0146 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.2043-4436G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168463 | ||||||
| chrX:44168480
|
C | T | 1 | a0001c0001t0001g0075 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2043-4453G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168480 | ||||||
| chrX:44168489
|
G | A | 1 | a0005c0005t0001g0144 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.2043-4462C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168489 | ||||||
| chrX:44168510
|
C | A | 42 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0001g0194others(39): Show | 42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2043-4483G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168510 | ||||||
| chrX:44168536
|
G | GA | 43 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0001g0185others(40): Show | 43 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(40): Show |
intron_variant | MODIFIER | c.2043-4510dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168536 | ||||||
| chrX:44168536
|
GA | G | 2 | a0001c0001t0002g0038a0001c0001t0003g0218 | 2 | HG03579.hp1 NA18939.hp1 |
intron_variant | MODIFIER | c.2043-4510delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168536 | ||||||
| chrX:44168697
|
C | T | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2043-4670G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168697 | ||||||
| chrX:44168981
|
A | AG | 4 | a0001c0001t0008g0035a0001c0001t0008g0041a0001c0001t0008g0202others(1): Show | 4 | HG02809.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2043-4955_2043-495 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168981 | ||||||
| chrX:44168982
|
C | A | 4 | a0001c0001t0008g0035a0001c0001t0008g0041a0001c0001t0008g0202others(1): Show | 4 | HG02809.hp2 HG03098.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2043-4955G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168982 | ||||||
| chrX:44168982
|
C | G | 216 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(213): Show | 216 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(213): Show |
intron_variant | MODIFIER | c.2043-4955G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168982 | ||||||
| chrX:44168991
|
A | C | 3 | a0001c0001t0002g0081a0001c0001t0002g0107a0001c0001t0002g0197 | 3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2043-4964T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44168991 | ||||||
| chrX:44169113
|
A | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2043-5086T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169113 | ||||||
| chrX:44169158
|
A | G | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2043-5131T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169158 | ||||||
| chrX:44169273
|
ATTAT | A | 7 | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0009g0007others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(4): Show |
intron_variant | MODIFIER | c.2043-5250_2043-524 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169273 | ||||||
| chrX:44169486
|
G | T | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2043-5459C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169486 | ||||||
| chrX:44169676
|
A | G | 134 | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0017others(131): Show | 134 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(131): Show |
intron_variant | MODIFIER | c.2043-5649T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169676 | ||||||
| chrX:44169722
|
T | TAC | 62 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0034others(59): Show | 62 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.2043-5697_2043-569 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169722 | ||||||
| chrX:44169722
|
T | TACAC | 7 | a0003c0003t0002g0054a0003c0003t0002g0057a0003c0003t0002g0059others(4): Show | 7 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.2043-5699_2043-569 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169722 | ||||||
| chrX:44169722
|
T | TACACAC | 1 | a0002c0002t0002g0181 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2043-5701_2043-569 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169722 | ||||||
| chrX:44169722
|
TAC | T | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.2043-5697_2043-569 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169722 | ||||||
| chrX:44169746
|
T | C | 2 | a0003c0003t0002g0186a0003c0003t0002g0187 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.2043-5719A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169746 | ||||||
| chrX:44169751
|
A | ACTCT | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2043-5728_2043-572 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44169751 | ||||||
| chrX:44170096
|
T | C | 1 | a0001c0001t0001g0024 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2043-6069A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170096 | ||||||
| chrX:44170137
|
C | A | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2043-6110G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170137 | ||||||
| chrX:44170197
|
A | C | 1 | a0001c0001t0019g0067 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2042+6095T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170197 | ||||||
| chrX:44170250
|
GT | G | 40 | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0002g0064others(37): Show | 40 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.2042+6041delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170250 | ||||||
| chrX:44170480
|
T | C | 4 | a0002c0002t0004g0207a0002c0002t0004g0209a0002c0008t0004g0055others(1): Show | 4 | HG02074.hp1 NA18943.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.2042+5812A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170480 | ||||||
| chrX:44170822
|
T | C | 1 | a0002c0002t0002g0164 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2042+5470A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170822 | ||||||
| chrX:44170859
|
C | T | 2 | a0001c0001t0002g0097a0001c0001t0002g0098 | 2 | HG00642.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.2042+5433G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44170859 | ||||||
| chrX:44171000
|
C | T | 5 | a0001c0001t0008g0031a0001c0001t0008g0035a0001c0001t0008g0041others(2): Show | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2042+5292G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171000 | ||||||
| chrX:44171151
|
C | T | 5 | a0001c0001t0008g0031a0001c0001t0008g0035a0001c0001t0008g0041others(2): Show | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.2042+5141G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171151 | ||||||
| chrX:44171842
|
A | C | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2042+4450T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171842 | ||||||
| chrX:44171921
|
A | C | 1 | a0001c0001t0001g0045 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2042+4371T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44171921 | ||||||
| chrX:44172234
|
C | T | 1 | a0001c0001t0005g0192 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.2042+4058G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172234 | ||||||
| chrX:44172322
|
T | C | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2042+3970A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172322 | ||||||
| chrX:44172762
|
T | C | 42 | a0001c0001t0001g0074a0001c0001t0001g0085a0001c0001t0001g0194others(39): Show | 42 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.2042+3530A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172762 | ||||||
| chrX:44172945
|
C | G | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2042+3347G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172945 | ||||||
| chrX:44172961
|
G | C | 1 | a0001c0001t0001g0013 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2042+3331C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44172961 | ||||||
| chrX:44173204
|
C | T | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2042+3088G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173204 | ||||||
| chrX:44173400
|
T | C | 1 | a0001c0001t0002g0038 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2042+2892A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173400 | ||||||
| chrX:44173741
|
G | A | 41 | a0001c0001t0001g0085a0001c0001t0001g0194a0001c0001t0002g0064others(38): Show | 41 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(38): Show |
intron_variant | MODIFIER | c.2042+2551C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173741 | ||||||
| chrX:44173901
|
C | T | 1 | a0001c0001t0004g0162 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2042+2391G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173901 | ||||||
| chrX:44173919
|
C | T | 1 | a0007c0009t0017g0176 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2042+2373G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173919 | ||||||
| chrX:44173927
|
T | C | 128 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(125): Show | 128 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(125): Show |
intron_variant | MODIFIER | c.2042+2365A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44173927 | ||||||
| chrX:44174380
|
C | A | 90 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(87): Show | 90 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(87): Show |
intron_variant | MODIFIER | c.2042+1912G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174380 | ||||||
| chrX:44174641
|
CA | C | 2 | a0001c0001t0001g0052a0001c0001t0001g0215 | 2 | HG02040.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.2042+1650delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174641 | ||||||
| chrX:44174651
|
A | AG | 71 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0012others(68): Show | 71 | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(68): Show |
intron_variant | MODIFIER | c.2042+1640dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174651 | ||||||
| chrX:44174651
|
A | AGG | 15 | a0001c0001t0001g0024a0001c0001t0001g0076a0001c0001t0001g0103others(12): Show | 15 | HG00438.hp2 HG02258.hp1 HG02572.hp1 others(12): Show |
intron_variant | MODIFIER | c.2042+1639_2042+164 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174651 | ||||||
| chrX:44174651
|
A | AGGG | 2 | a0001c0001t0001g0085a0001c0001t0004g0156 | 2 | HG03471.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.2042+1638_2042+164 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174651 | ||||||
| chrX:44174651
|
AG | A | 1 | a0001c0001t0001g0065 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.2042+1640delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174651 | ||||||
| chrX:44174688
|
A | G | 1 | a0001c0001t0002g0107 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2042+1604T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174688 | ||||||
| chrX:44174699
|
G | A | 2 | a0001c0001t0001g0089a0001c0001t0001g0132 | 2 | HG02027.hp1 NA18982.hp1 |
intron_variant | MODIFIER | c.2042+1593C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174699 | ||||||
| chrX:44174712
|
G | A | 1 | a0001c0001t0006g0005 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2042+1580C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44174712 | ||||||
| chrX:44175264
|
T | G | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.2042+1028A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44175264 | ||||||
| chrX:44175754
|
C | T | 2 | a0001c0001t0009g0007a0001c0001t0009g0009 | 2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.2042+538G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44175754 | ||||||
| chrX:44176099
|
T | C | 6 | a0001c0001t0001g0194a0001c0001t0009g0007a0001c0001t0009g0009others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.2042+193A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44176099 | ||||||
| chrX:44176283
|
C | T | 1 | a0001c0001t0005g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2042+9G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 13/14 | chrX | 44176283 | ||||||
| chrX:44176428
|
C | T | 22 | a0001c0001t0002g0064a0001c0001t0002g0082a0001c0001t0002g0096others(19): Show | 22 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.1950-44G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44176428 | ||||||
| chrX:44176714
|
T | C | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1950-330A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44176714 | ||||||
| chrX:44176847
|
G | A | 1 | a0001c0001t0001g0116 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.1950-463C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44176847 | ||||||
| chrX:44177034
|
A | G | 1 | a0001c0001t0003g0208 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1950-650T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177034 | ||||||
| chrX:44177194
|
C | T | 1 | a0001c0001t0003g0088 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1950-810G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177194 | ||||||
| chrX:44177552
|
C | CA | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1949+814dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177552 | ||||||
| chrX:44177824
|
A | G | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1949+543T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177824 | ||||||
| chrX:44177967
|
C | CA | 7 | a0001c0001t0001g0200a0001c0001t0007g0124a0001c0006t0001g0030others(4): Show | 7 | HG00438.hp1 HG01256.hp1 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.1949+399dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177967 | ||||||
| chrX:44177967
|
CA | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1949+399delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44177967 | ||||||
| chrX:44178063
|
G | A | 1 | a0001c0001t0001g0116 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.1949+304C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178063 | ||||||
| chrX:44178129
|
T | TAACACAC others(7): Show |
1 | a0001c0001t0001g0017 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1949+237_1949+238i others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TAACACAC others(9): Show |
1 | a0001c0001t0001g0006 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1949+237_1949+238i others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCA | 9 | a0001c0001t0001g0045a0001c0001t0001g0112a0001c0001t0001g0123others(6): Show | 9 | HG00673.hp1 HG00738.hp1 HG01168.hp1 others(6): Show |
intron_variant | MODIFIER | c.1949+236_1949+237d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCACACAC others(1): Show |
9 | a0001c0001t0001g0194a0001c0001t0002g0038a0001c0001t0003g0171others(6): Show | 9 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1949+230_1949+237d others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCACACAC others(3): Show |
13 | a0001c0001t0001g0074a0001c0001t0002g0064a0001c0001t0002g0096others(10): Show | 13 | HG01243.hp1 HG01361.hp1 HG02630.hp1 others(10): Show |
intron_variant | MODIFIER | c.1949+228_1949+237d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCACACAC others(5): Show |
40 | a0001c0001t0001g0076a0001c0001t0001g0103a0001c0001t0002g0081others(37): Show | 40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.1949+226_1949+237d others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCACACAC others(7): Show |
19 | a0001c0001t0001g0189a0001c0001t0002g0097a0001c0001t0002g0101others(16): Show | 19 | HG00621.hp1 HG01081.hp1 HG01081.hp2 others(16): Show |
intron_variant | MODIFIER | c.1949+224_1949+237d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCACACAC others(9): Show |
14 | a0001c0001t0001g0104a0001c0001t0002g0082a0001c0001t0002g0098others(11): Show | 14 | HG00642.hp1 HG01168.hp2 HG01496.hp1 others(11): Show |
intron_variant | MODIFIER | c.1949+222_1949+237d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCACACAC others(11): Show |
8 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080others(5): Show | 8 | HG01934.hp1 HG02572.hp1 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.1949+220_1949+237d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
T | TCACACAC others(13): Show |
1 | a0001c0001t0001g0024 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1949+218_1949+237d others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
TCA | T | 4 | a0001c0001t0001g0211a0001c0001t0003g0037a0001c0001t0006g0036others(1): Show | 4 | HG01169.hp1 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1949+236_1949+237d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
TCACA | T | 8 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0034others(5): Show | 8 | HG02055.hp1 HG02280.hp1 HG02630.hp2 others(5): Show |
intron_variant | MODIFIER | c.1949+234_1949+237d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
TCACACA | T | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1949+232_1949+237d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
TCACACAC others(1): Show |
T | 2 | a0001c0001t0012g0032a0001c0001t0012g0033 | 2 | HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1949+230_1949+237d others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178129
|
TCACACAC others(3): Show |
T | 5 | a0001c0001t0008g0031a0001c0001t0008g0035a0001c0001t0008g0041others(2): Show | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1949+228_1949+237d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178129 | ||||||
| chrX:44178276
|
T | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1949+91A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 12/14 | chrX | 44178276 | ||||||
| chrX:44178888
|
A | G | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1752-324T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44178888 | ||||||
| chrX:44178969
|
T | C | 1 | a0001c0001t0003g0138 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1752-405A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44178969 | ||||||
| chrX:44179053
|
A | G | 3 | a0001c0001t0003g0051a0001c0001t0003g0122a0001c0001t0003g0204 | 3 | NA18952.hp1 NA18959.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1752-489T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179053 | ||||||
| chrX:44179172
|
T | TA | 17 | a0001c0001t0001g0012a0001c0001t0005g0004a0001c0001t0005g0039others(14): Show | 17 | HG00438.hp2 HG02055.hp1 HG02280.hp1 others(14): Show |
intron_variant | MODIFIER | c.1752-609dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179172 | ||||||
| chrX:44179187
|
AAAC | A | 2 | a0001c0001t0004g0175a0001c0001t0004g0210 | 2 | HG02602.hp1 HG02683.hp2 |
intron_variant | MODIFIER | c.1752-626_1752-624d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179187 | ||||||
| chrX:44179238
|
T | C | 17 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(14): Show | 17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1752-674A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179238 | ||||||
| chrX:44179842
|
T | C | 1 | a0001c0001t0001g0065 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1752-1278A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179842 | ||||||
| chrX:44179960
|
G | A | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-1396C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44179960 | ||||||
| chrX:44180063
|
G | A | 5 | a0001c0001t0008g0031a0001c0001t0008g0035a0001c0001t0008g0041others(2): Show | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-1499C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180063 | ||||||
| chrX:44180109
|
C | T | 5 | a0001c0001t0001g0085a0001c0001t0004g0105a0006c0007t0002g0025others(2): Show | 5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1752-1545G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180109 | ||||||
| chrX:44180346
|
C | T | 2 | a0001c0001t0001g0085a0001c0001t0004g0105 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1752-1782G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180346 | ||||||
| chrX:44180394
|
C | T | 1 | a0001c0001t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1752-1830G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180394 | ||||||
| chrX:44180435
|
T | C | 131 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(128): Show | 131 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(128): Show |
intron_variant | MODIFIER | c.1752-1871A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180435 | ||||||
| chrX:44180484
|
G | A | 1 | a0001c0001t0021g0131 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.1752-1920C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180484 | ||||||
| chrX:44180737
|
C | CAAAT | 37 | a0001c0001t0002g0038a0001c0001t0003g0016a0001c0001t0003g0037others(34): Show | 37 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.1752-2177_1752-217 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180737 | ||||||
| chrX:44180757
|
T | TAAAA | 27 | a0001c0001t0003g0046a0001c0001t0003g0051a0001c0001t0003g0119others(24): Show | 27 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(24): Show |
intron_variant | MODIFIER | c.1752-2197_1752-219 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180757 | ||||||
| chrX:44180930
|
C | CA | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-2367dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180930 | ||||||
| chrX:44180930
|
CA | C | 124 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(121): Show | 124 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(121): Show |
intron_variant | MODIFIER | c.1752-2367delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180930 | ||||||
| chrX:44180930
|
CAA | C | 1 | a0001c0001t0003g0208 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1752-2368_1752-236 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44180930 | ||||||
| chrX:44181080
|
C | G | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-2516G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181080 | ||||||
| chrX:44181106
|
A | G | 4 | a0001c0001t0003g0208a0001c0001t0003g0218a0008c0010t0003g0172others(1): Show | 4 | NA18939.hp1 NA18969.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-2542T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181106 | ||||||
| chrX:44181171
|
T | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-2607A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181171 | ||||||
| chrX:44181282
|
TA | T | 12 | a0001c0001t0003g0127a0001c0001t0003g0138a0001c0001t0003g0141others(9): Show | 12 | HG02155.hp2 HG02257.hp1 NA18939.hp1 others(9): Show |
intron_variant | MODIFIER | c.1752-2719delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181282 | ||||||
| chrX:44181349
|
G | GA | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-2786dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181349 | ||||||
| chrX:44181349
|
GA | G | 20 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(17): Show | 20 | HG01074.hp1 HG01109.hp1 HG01952.hp1 others(17): Show |
intron_variant | MODIFIER | c.1752-2786delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181349 | ||||||
| chrX:44181397
|
C | T | 22 | a0001c0001t0002g0064a0001c0001t0002g0082a0001c0001t0002g0096others(19): Show | 22 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(19): Show |
intron_variant | MODIFIER | c.1752-2833G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181397 | ||||||
| chrX:44181664
|
G | A | 1 | a0001c0001t0001g0040 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1752-3100C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181664 | ||||||
| chrX:44181982
|
G | A | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-3418C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44181982 | ||||||
| chrX:44182149
|
A | G | 1 | a0004c0004t0001g0021 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1752-3585T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44182149 | ||||||
| chrX:44182980
|
A | G | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1752-4416T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44182980 | ||||||
| chrX:44183146
|
C | T | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-4582G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183146 | ||||||
| chrX:44183333
|
G | A | 1 | a0001c0001t0003g0184 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1752-4769C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183333 | ||||||
| chrX:44183521
|
G | T | 5 | a0001c0001t0008g0031a0001c0001t0008g0035a0001c0001t0008g0041others(2): Show | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-4957C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183521 | ||||||
| chrX:44183585
|
C | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1752-5021G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183585 | ||||||
| chrX:44183663
|
T | C | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1752-5099A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183663 | ||||||
| chrX:44183717
|
T | C | 46 | a0001c0001t0002g0038a0001c0001t0003g0016a0001c0001t0003g0037others(43): Show | 46 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(43): Show |
intron_variant | MODIFIER | c.1752-5153A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183717 | ||||||
| chrX:44183743
|
C | T | 1 | a0001c0001t0003g0171 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1752-5179G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183743 | ||||||
| chrX:44183810
|
G | A | 1 | a0001c0001t0006g0078 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1752-5246C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44183810 | ||||||
| chrX:44184047
|
T | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-5483A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184047 | ||||||
| chrX:44184131
|
CA | C | 1 | a0001c0001t0003g0136 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1752-5568delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184131 | ||||||
| chrX:44184406
|
CT | C | 2 | a0001c0001t0001g0070a0001c0001t0001g0153 | 2 | HG02004.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.1752-5843delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184406 | ||||||
| chrX:44184494
|
C | T | 1 | a0001c0001t0001g0189 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1752-5930G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184494 | ||||||
| chrX:44184539
|
AT | A | 1 | a0001c0001t0002g0038 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1752-5976delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184539 | ||||||
| chrX:44184723
|
C | CA | 3 | a0001c0001t0001g0211a0001c0001t0003g0119a0008c0010t0006g0163 | 3 | HG02965.hp1 NA18985.hp1 NA19006.hp1 |
intron_variant | MODIFIER | c.1752-6160dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184723 | ||||||
| chrX:44184723
|
CA | C | 50 | a0001c0001t0001g0074a0001c0001t0001g0093a0001c0001t0001g0099others(47): Show | 50 | HG00438.hp2 HG00558.hp1 HG01070.hp1 others(47): Show |
intron_variant | MODIFIER | c.1752-6160delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184723 | ||||||
| chrX:44184723
|
CAA | C | 45 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(42): Show | 45 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(42): Show |
intron_variant | MODIFIER | c.1752-6161_1752-616 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44184723 | ||||||
| chrX:44185017
|
T | C | 1 | a0001c0001t0001g0095 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1752-6453A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44185017 | ||||||
| chrX:44185222
|
C | T | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1752-6658G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44185222 | ||||||
| chrX:44185542
|
C | CT | 1 | a0001c0001t0004g0092 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1752-6979dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44185542 | ||||||
| chrX:44185542
|
CT | C | 13 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(10): Show | 13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1752-6979delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44185542 | ||||||
| chrX:44186011
|
G | A | 1 | a0001c0001t0001g0017 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1752-7447C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186011 | ||||||
| chrX:44186163
|
T | C | 44 | a0001c0001t0003g0016a0001c0001t0003g0037a0001c0001t0003g0046others(41): Show | 44 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(41): Show |
intron_variant | MODIFIER | c.1752-7599A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186163 | ||||||
| chrX:44186344
|
T | A | 66 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(63): Show | 66 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(63): Show |
intron_variant | MODIFIER | c.1752-7780A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186344 | ||||||
| chrX:44186483
|
G | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-7919C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186483 | ||||||
| chrX:44186753
|
G | C | 41 | a0001c0001t0001g0045a0001c0001t0001g0053a0001c0001t0001g0068others(38): Show | 41 | HG00140.hp1 HG00558.hp1 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.1752-8189C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186753 | ||||||
| chrX:44186932
|
A | G | 2 | a0001c0001t0002g0081a0001c0001t0002g0107 | 2 | HG02886.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1752-8368T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186932 | ||||||
| chrX:44186963
|
TA | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-8400delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44186963 | ||||||
| chrX:44187135
|
G | GATATATA others(38): Show |
1 | a0001c0001t0005g0178 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(49): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTA | 1 | a0001c0001t0004g0150 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1752-8573_1752-857 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(3): Show |
4 | a0001c0001t0001g0194a0001c0001t0009g0007a0001c0001t0009g0009others(1): Show | 4 | HG02257.hp2 HG02451.hp1 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-8581_1752-857 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(5): Show |
2 | a0001c0001t0009g0158a0001c0001t0009g0179 | 2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.1752-8583_1752-857 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(7): Show |
5 | a0001c0001t0007g0124a0002c0002t0007g0118a0002c0002t0007g0155others(2): Show | 5 | HG00438.hp1 HG01256.hp1 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.1752-8585_1752-857 others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(9): Show |
17 | a0001c0001t0002g0064a0001c0001t0002g0097a0001c0001t0002g0098others(14): Show | 17 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(14): Show |
intron_variant | MODIFIER | c.1752-8587_1752-857 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(11): Show |
7 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(4): Show | 7 | HG01975.hp2 HG01981.hp2 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(13): Show |
7 | a0001c0001t0002g0081a0001c0001t0002g0107a0001c0001t0002g0197others(4): Show | 7 | HG02886.hp1 HG03041.hp2 HG03225.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(15): Show |
6 | a0001c0001t0003g0184a0001c0001t0010g0193a0003c0003t0002g0100others(3): Show | 6 | HG01361.hp1 HG01515.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(17): Show |
6 | a0001c0001t0002g0038a0001c0001t0006g0005a0001c0001t0024g0221others(3): Show | 6 | HG01070.hp1 HG01071.hp2 HG03579.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(19): Show |
2 | a0001c0001t0003g0037a0003c0003t0002g0058 | 2 | HG01169.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(30): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(21): Show |
5 | a0001c0001t0003g0046a0001c0001t0003g0147a0001c0001t0006g0036others(2): Show | 5 | HG01168.hp2 HG01981.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(23): Show |
7 | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0103others(4): Show | 7 | HG01081.hp1 HG01928.hp1 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(25): Show |
7 | a0001c0001t0001g0024a0001c0001t0003g0136a0001c0001t0011g0048others(4): Show | 7 | HG01943.hp1 HG01975.hp1 HG02148.hp1 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(36): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(27): Show |
8 | a0001c0001t0003g0208a0001c0001t0003g0218a0001c0001t0006g0043others(5): Show | 8 | HG01496.hp1 HG02451.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(38): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(29): Show |
11 | a0001c0001t0001g0017a0001c0001t0001g0104a0001c0001t0003g0141others(8): Show | 11 | HG00438.hp2 HG01243.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(40): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(31): Show |
5 | a0001c0001t0003g0188a0001c0001t0005g0039a0001c0001t0005g0084others(2): Show | 5 | HG00621.hp1 NA18960.hp1 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(42): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(33): Show |
7 | a0001c0001t0003g0119a0001c0001t0003g0138a0001c0001t0003g0165others(4): Show | 7 | HG00741.hp1 HG02280.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(44): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(35): Show |
6 | a0001c0001t0003g0127a0001c0001t0003g0154a0001c0001t0003g0220others(3): Show | 6 | NA18953.hp1 NA18981.hp1 NA18988.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(46): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(37): Show |
4 | a0001c0001t0003g0051a0001c0001t0003g0122a0001c0001t0003g0183others(1): Show | 4 | HG03688.hp1 NA18940.hp1 NA18952.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(48): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(39): Show |
4 | a0001c0001t0003g0204a0001c0001t0005g0149a0001c0001t0005g0192others(1): Show | 4 | NA18961.hp1 NA19063.hp1 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(50): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTATATAT others(41): Show |
2 | a0001c0001t0005g0169a0001c0001t0005g0212 | 2 | NA18977.hp1 NA19080.hp2 |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(52): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTGTATAT others(13): Show |
3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-8572_1752-857 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTGTATAT others(19): Show |
1 | a0001c0001t0004g0105 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(30): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTGTATAT others(23): Show |
1 | a0001c0001t0001g0085 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTGTATAT others(29): Show |
1 | a0001c0001t0010g0135 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(40): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187135
|
G | GTTATATA others(26): Show |
1 | a0001c0001t0001g0006 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1752-8572_1752-857 others(37): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187135 | ||||||
| chrX:44187449
|
A | T | 36 | a0001c0001t0001g0194a0001c0001t0002g0064a0001c0001t0002g0081others(33): Show | 36 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.1752-8885T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187449 | ||||||
| chrX:44187451
|
AT | A | 1 | a0001c0001t0001g0116 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.1752-8888delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187451 | ||||||
| chrX:44187513
|
GTCTGTA | G | 5 | a0001c0001t0001g0085a0001c0001t0004g0105a0006c0007t0002g0025others(2): Show | 5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1752-8955_1752-895 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187513 | ||||||
| chrX:44187905
|
G | A | 1 | a0002c0002t0002g0201 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1752-9341C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187905 | ||||||
| chrX:44187934
|
C | T | 1 | a0001c0001t0001g0068 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1752-9370G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187934 | ||||||
| chrX:44187970
|
G | GT | 211 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(208): Show | 211 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(208): Show |
intron_variant | MODIFIER | c.1752-9407dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187970 | ||||||
| chrX:44187970
|
G | GTT | 2 | a0001c0001t0002g0096a0001c0001t0003g0016 | 2 | HG03041.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.1752-9408_1752-940 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187970 | ||||||
| chrX:44187972
|
T | TG | 2 | a0001c0001t0002g0038a0001c0001t0018g0019 | 2 | HG01243.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1752-9409_1752-940 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44187972 | ||||||
| chrX:44188146
|
A | AT | 1 | a0001c0001t0004g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1752-9583dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44188146 | ||||||
| chrX:44188146
|
A | ATT | 59 | a0001c0001t0003g0016a0001c0001t0003g0037a0001c0001t0003g0046others(56): Show | 59 | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.1752-9584_1752-958 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44188146 | ||||||
| chrX:44188146
|
A | ATTT | 2 | a0001c0001t0022g0042a0003c0003t0002g0109 | 2 | HG01981.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1752-9585_1752-958 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44188146 | ||||||
| chrX:44188146
|
AT | A | 5 | a0001c0001t0001g0040a0001c0001t0001g0113a0001c0001t0004g0044others(2): Show | 5 | HG00558.hp2 HG00609.hp1 NA18989.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-9583delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44188146 | ||||||
| chrX:44188438
|
C | CCATT | 1 | a0001c0001t0003g0051 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1752-9878_1752-987 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44188438 | ||||||
| chrX:44189027
|
G | A | 1 | a0001c0001t0003g0141 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1752-10463C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189027 | ||||||
| chrX:44189058
|
T | G | 1 | a0001c0001t0003g0138 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1752-10494A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189058 | ||||||
| chrX:44189098
|
C | T | 1 | a0001c0001t0011g0049 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1752-10534G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189098 | ||||||
| chrX:44189122
|
C | CA | 87 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0070others(84): Show | 87 | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(84): Show |
intron_variant | MODIFIER | c.1752-10559dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | ||||||
| chrX:44189122
|
C | CAA | 19 | a0001c0001t0003g0119a0001c0001t0007g0124a0001c0001t0024g0221others(16): Show | 19 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(16): Show |
intron_variant | MODIFIER | c.1752-10560_1752-10 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | ||||||
| chrX:44189122
|
CA | C | 11 | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0017others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1752-10559delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | ||||||
| chrX:44189122
|
CAAAA | C | 1 | a0001c0001t0001g0010 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1752-10562_1752-10 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | ||||||
| chrX:44189122
|
CAAAAAAA | C | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1752-10565_1752-10 others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44189122 | ||||||
| chrX:44190059
|
T | C | 1 | a0001c0001t0002g0082 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1752-11495A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190059 | ||||||
| chrX:44190130
|
A | G | 2 | a0001c0001t0001g0195a0001c0001t0001g0196 | 2 | HG02630.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1752-11566T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190130 | ||||||
| chrX:44190233
|
C | T | 1 | a0001c0001t0005g0121 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.1752-11669G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190233 | ||||||
| chrX:44190363
|
AG | A | 2 | a0001c0001t0001g0195a0001c0001t0001g0196 | 2 | HG02630.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.1752-11800delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190363 | ||||||
| chrX:44190538
|
A | AT | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-11975dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190538 | ||||||
| chrX:44190608
|
G | A | 1 | a0001c0001t0001g0074 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1752-12044C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190608 | ||||||
| chrX:44190702
|
G | GA | 193 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0012others(190): Show | 193 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(190): Show |
intron_variant | MODIFIER | c.1752-12139dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44190702 | ||||||
| chrX:44191241
|
A | AT | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-12678dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44191241 | ||||||
| chrX:44191261
|
G | C | 5 | a0001c0001t0008g0031a0001c0001t0008g0035a0001c0001t0008g0041others(2): Show | 5 | HG02717.hp1 HG02809.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-12697C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44191261 | ||||||
| chrX:44191668
|
G | A | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1752-13104C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44191668 | ||||||
| chrX:44192061
|
A | AGT | 78 | a0001c0001t0001g0045a0001c0001t0001g0053a0001c0001t0001g0068others(75): Show | 78 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(75): Show |
intron_variant | MODIFIER | c.1752-13499_1752-13 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | ||||||
| chrX:44192061
|
A | AGTGT | 30 | a0001c0001t0001g0010a0001c0001t0001g0069a0001c0001t0001g0070others(27): Show | 30 | HG00741.hp2 HG01069.hp1 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.1752-13501_1752-13 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | ||||||
| chrX:44192061
|
A | AGTGTGT | 2 | a0004c0004t0002g0027a0004c0004t0002g0028 | 2 | HG02809.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1752-13503_1752-13 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | ||||||
| chrX:44192061
|
A | AGTGTGTG others(1): Show |
4 | a0001c0001t0001g0008a0003c0003t0002g0100a0004c0004t0002g0022others(1): Show | 4 | HG01255.hp1 HG01361.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-13505_1752-13 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | ||||||
| chrX:44192061
|
AGT | A | 22 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0017others(19): Show | 22 | HG01433.hp1 HG02258.hp1 HG02280.hp2 others(19): Show |
intron_variant | MODIFIER | c.1752-13499_1752-13 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | ||||||
| chrX:44192061
|
AGTGT | A | 5 | a0001c0001t0001g0177a0001c0001t0001g0185a0006c0007t0002g0025others(2): Show | 5 | HG00280.hp1 HG02572.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.1752-13501_1752-13 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | ||||||
| chrX:44192061
|
AGTGTGTG others(1): Show |
A | 1 | a0001c0001t0002g0081 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1752-13505_1752-13 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192061 | ||||||
| chrX:44192142
|
T | G | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1752-13578A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192142 | ||||||
| chrX:44192558
|
C | T | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1752-13994G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192558 | ||||||
| chrX:44192866
|
ATAT | A | 29 | a0001c0001t0003g0046a0001c0001t0003g0119a0001c0001t0003g0127others(26): Show | 29 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(26): Show |
intron_variant | MODIFIER | c.1752-14305_1752-14 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192866 | ||||||
| chrX:44192901
|
C | A | 3 | a0001c0001t0002g0081a0001c0001t0002g0107a0001c0001t0002g0197 | 3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1752-14337G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192901 | ||||||
| chrX:44192903
|
C | T | 1 | a0001c0001t0003g0218 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.1752-14339G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192903 | ||||||
| chrX:44192935
|
C | T | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-14371G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44192935 | ||||||
| chrX:44193088
|
A | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-14524T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193088 | ||||||
| chrX:44193401
|
T | C | 1 | a0001c0001t0001g0151 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1752-14837A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193401 | ||||||
| chrX:44193493
|
C | T | 16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1752-14929G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193493 | ||||||
| chrX:44193528
|
A | G | 30 | a0001c0001t0002g0064a0001c0001t0002g0081a0001c0001t0002g0082others(27): Show | 30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1752-14964T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193528 | ||||||
| chrX:44193572
|
G | A | 1 | a0001c0001t0001g0085 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1752-15008C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193572 | ||||||
| chrX:44193670
|
C | T | 1 | a0001c0001t0002g0197 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1752-15106G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193670 | ||||||
| chrX:44193927
|
C | G | 27 | a0001c0001t0002g0064a0001c0001t0002g0082a0001c0001t0002g0096others(24): Show | 27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.1752-15363G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44193927 | ||||||
| chrX:44194102
|
A | ATAGTCAT others(21): Show |
1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15566_1752-15 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194102 | ||||||
| chrX:44194150
|
AG | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15587delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194150 | ||||||
| chrX:44194177
|
TA | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15614delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194177 | ||||||
| chrX:44194184
|
A | AT | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15621dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194184 | ||||||
| chrX:44194244
|
AT | A | 120 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(117): Show | 120 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(117): Show |
intron_variant | MODIFIER | c.1752-15681delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194244 | ||||||
| chrX:44194261
|
TG | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15698delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194261 | ||||||
| chrX:44194325
|
AT | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15762delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194325 | ||||||
| chrX:44194367
|
GT | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15804delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194367 | ||||||
| chrX:44194399
|
CA | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-15836delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194399 | ||||||
| chrX:44194594
|
AG | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16031delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194594 | ||||||
| chrX:44194672
|
GA | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16109delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194672 | ||||||
| chrX:44194860
|
TA | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16297delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44194860 | ||||||
| chrX:44195076
|
A | G | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1752-16512T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195076 | ||||||
| chrX:44195122
|
CA | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16559delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195122 | ||||||
| chrX:44195193
|
A | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16629T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195193 | ||||||
| chrX:44195364
|
C | T | 17 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(14): Show | 17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1752-16800G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195364 | ||||||
| chrX:44195395
|
C | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1752-16831G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195395 | ||||||
| chrX:44195403
|
ATG | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16841_1752-16 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195403 | ||||||
| chrX:44195433
|
GT | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-16870delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195433 | ||||||
| chrX:44195444
|
G | GT | 70 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(67): Show | 70 | HG00621.hp1 HG00741.hp1 HG00741.hp2 others(67): Show |
intron_variant | MODIFIER | c.1752-16881dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195444 | ||||||
| chrX:44195733
|
TG | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-17170delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195733 | ||||||
| chrX:44195782
|
A | G | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-17218T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195782 | ||||||
| chrX:44195796
|
CCTTT | C | 33 | a0001c0001t0003g0016a0001c0001t0003g0046a0001c0001t0003g0119others(30): Show | 33 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(30): Show |
intron_variant | MODIFIER | c.1752-17236_1752-17 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195796 | ||||||
| chrX:44195918
|
GT | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1752-17355delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195918 | ||||||
| chrX:44195959
|
A | G | 30 | a0001c0001t0002g0064a0001c0001t0002g0081a0001c0001t0002g0082others(27): Show | 30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1752-17395T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44195959 | ||||||
| chrX:44196199
|
G | A | 2 | a0001c0001t0001g0093a0001c0001t0001g0214 | 2 | HG02129.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1752-17635C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196199 | ||||||
| chrX:44196584
|
C | G | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1752-18020G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196584 | ||||||
| chrX:44196696
|
A | G | 3 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080 | 3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1752-18132T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196696 | ||||||
| chrX:44196911
|
T | G | 59 | a0001c0001t0001g0085a0001c0001t0001g0194a0001c0001t0002g0064others(56): Show | 59 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(56): Show |
intron_variant | MODIFIER | c.1752-18347A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44196911 | ||||||
| chrX:44197089
|
T | C | 27 | a0001c0001t0002g0064a0001c0001t0002g0082a0001c0001t0002g0096others(24): Show | 27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.1752-18525A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44197089 | ||||||
| chrX:44197289
|
G | GTTCA | 2 | a0001c0001t0001g0152a0001c0001t0022g0042 | 2 | HG01192.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1752-18729_1752-18 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44197289 | ||||||
| chrX:44197834
|
G | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-19270C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44197834 | ||||||
| chrX:44198145
|
TA | T | 3 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080 | 3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1752-19582delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198145 | ||||||
| chrX:44198230
|
C | T | 1 | a0001c0001t0004g0156 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1752-19666G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198230 | ||||||
| chrX:44198531
|
A | G | 2 | a0001c0001t0001g0076a0001c0001t0001g0103 | 2 | HG02258.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1752-19967T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198531 | ||||||
| chrX:44198617
|
G | A | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1752-20053C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198617 | ||||||
| chrX:44198626
|
G | A | 4 | a0001c0001t0009g0158a0001c0001t0009g0179a0001c0001t0009g0198others(1): Show | 4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1752-20062C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198626 | ||||||
| chrX:44198803
|
T | C | 47 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(44): Show | 47 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.1752-20239A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44198803 | ||||||
| chrX:44200473
|
T | C | 99 | a0001c0001t0001g0194a0001c0001t0002g0038a0001c0001t0002g0064others(96): Show | 99 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(96): Show |
intron_variant | MODIFIER | c.1752-21909A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44200473 | ||||||
| chrX:44200888
|
C | T | 1 | a0001c0001t0001g0214 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1752-22324G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44200888 | ||||||
| chrX:44201688
|
GC | G | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23125delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201688 | ||||||
| chrX:44201790
|
CT | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23227delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201790 | ||||||
| chrX:44201857
|
A | AC | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23294dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201857 | ||||||
| chrX:44201866
|
CT | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23303delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201866 | ||||||
| chrX:44201884
|
G | GA | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23321dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201884 | ||||||
| chrX:44201963
|
TA | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23400delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201963 | ||||||
| chrX:44201976
|
A | G | 6 | a0001c0001t0003g0051a0001c0001t0003g0122a0001c0001t0003g0154others(3): Show | 6 | NA18747.hp1 NA18952.hp1 NA18953.hp1 others(3): Show |
intron_variant | MODIFIER | c.1752-23412T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44201976 | ||||||
| chrX:44202110
|
CA | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23547delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202110 | ||||||
| chrX:44202123
|
CA | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23560delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202123 | ||||||
| chrX:44202211
|
CA | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23648delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202211 | ||||||
| chrX:44202215
|
AC | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23652delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202215 | ||||||
| chrX:44202237
|
AC | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23674delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202237 | ||||||
| chrX:44202250
|
TA | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23687delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202250 | ||||||
| chrX:44202324
|
AT | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23761delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202324 | ||||||
| chrX:44202367
|
G | C | 1 | a0001c0001t0004g0050 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1752-23803C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202367 | ||||||
| chrX:44202373
|
T | C | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1752-23809A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202373 | ||||||
| chrX:44202435
|
G | T | 1 | a0001c0001t0005g0192 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1752-23871C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202435 | ||||||
| chrX:44202444
|
A | AG | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23881dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202444 | ||||||
| chrX:44202457
|
AC | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23894delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202457 | ||||||
| chrX:44202507
|
CA | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-23944delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202507 | ||||||
| chrX:44202750
|
T | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1752-24186A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202750 | ||||||
| chrX:44202840
|
A | AG | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-24277dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202840 | ||||||
| chrX:44202877
|
AG | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-24314delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202877 | ||||||
| chrX:44202878
|
G | A | 2 | a0002c0008t0004g0055a0002c0008t0004g0128 | 2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.1752-24314C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202878 | ||||||
| chrX:44202907
|
AG | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-24344delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202907 | ||||||
| chrX:44202938
|
TG | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1752-24375delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44202938 | ||||||
| chrX:44203771
|
C | T | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1752-25207G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44203771 | ||||||
| chrX:44203940
|
A | G | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1752-25376T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44203940 | ||||||
| chrX:44204234
|
C | CA | 23 | a0001c0001t0001g0040a0001c0001t0001g0114a0001c0001t0001g0116others(20): Show | 23 | HG00438.hp2 HG02071.hp1 HG03942.hp1 others(20): Show |
intron_variant | MODIFIER | c.1751+25414dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204234 | ||||||
| chrX:44204234
|
C | CAA | 38 | a0001c0001t0003g0016a0001c0001t0003g0046a0001c0001t0003g0051others(35): Show | 38 | HG00741.hp1 HG01168.hp2 HG01243.hp1 others(35): Show |
intron_variant | MODIFIER | c.1751+25413_1751+25 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204234 | ||||||
| chrX:44204234
|
C | CAAA | 4 | a0001c0001t0003g0037a0001c0001t0003g0183a0001c0001t0003g0204others(1): Show | 4 | HG00621.hp1 HG01169.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751+25412_1751+25 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204234 | ||||||
| chrX:44204234
|
CA | C | 31 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(28): Show | 31 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(28): Show |
intron_variant | MODIFIER | c.1751+25414delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204234 | ||||||
| chrX:44204929
|
A | C | 1 | a0001c0001t0001g0069 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1751+24720T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204929 | ||||||
| chrX:44204965
|
T | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+24684A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44204965 | ||||||
| chrX:44205211
|
T | C | 42 | a0001c0001t0003g0016a0001c0001t0003g0037a0001c0001t0003g0046others(39): Show | 42 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(39): Show |
intron_variant | MODIFIER | c.1751+24438A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205211 | ||||||
| chrX:44205415
|
T | TA | 41 | a0001c0001t0001g0008a0001c0001t0003g0016a0001c0001t0003g0046others(38): Show | 41 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(38): Show |
intron_variant | MODIFIER | c.1751+24233dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205415 | ||||||
| chrX:44205591
|
C | A | 1 | a0001c0001t0011g0048 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1751+24058G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205591 | ||||||
| chrX:44205655
|
C | T | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1751+23994G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44205655 | ||||||
| chrX:44206374
|
A | G | 1 | a0001c0001t0001g0112 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1751+23275T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206374 | ||||||
| chrX:44206638
|
T | C | 10 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(7): Show | 10 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.1751+23011A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206638 | ||||||
| chrX:44206790
|
T | C | 44 | a0001c0001t0002g0038a0001c0001t0003g0016a0001c0001t0003g0037others(41): Show | 44 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(41): Show |
intron_variant | MODIFIER | c.1751+22859A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206790 | ||||||
| chrX:44206896
|
A | C | 1 | a0001c0001t0002g0038 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1751+22753T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206896 | ||||||
| chrX:44206896
|
A | T | 218 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(215): Show | 218 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(215): Show |
intron_variant | MODIFIER | c.1751+22753T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44206896 | ||||||
| chrX:44207019
|
C | T | 72 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(69): Show | 72 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(69): Show |
intron_variant | MODIFIER | c.1751+22630G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207019 | ||||||
| chrX:44207035
|
A | G | 13 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(10): Show | 13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1751+22614T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207035 | ||||||
| chrX:44207301
|
C | T | 1 | a0001c0001t0004g0134 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1751+22348G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207301 | ||||||
| chrX:44207511
|
T | TA | 16 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(13): Show | 16 | HG00438.hp2 HG02896.hp1 NA18940.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+22137dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207511 | ||||||
| chrX:44207511
|
T | TAA | 5 | a0001c0001t0001g0194a0001c0001t0009g0009a0001c0001t0009g0158others(2): Show | 5 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+22136_1751+22 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207511 | ||||||
| chrX:44207792
|
TCAACAAC others(2): Show |
T | 2 | a0001c0001t0001g0151a0001c0001t0001g0152 | 2 | HG00140.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1751+21848_1751+21 others(15): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207792 | ||||||
| chrX:44207844
|
C | T | 1 | a0005c0005t0001g0144 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1751+21805G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44207844 | ||||||
| chrX:44208000
|
G | A | 1 | a0001c0001t0003g0141 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1751+21649C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208000 | ||||||
| chrX:44208478
|
G | A | 1 | a0001c0001t0018g0019 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1751+21171C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208478 | ||||||
| chrX:44208628
|
T | C | 61 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(58): Show | 61 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(58): Show |
intron_variant | MODIFIER | c.1751+21021A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208628 | ||||||
| chrX:44208837
|
C | G | 55 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(52): Show | 55 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(52): Show |
intron_variant | MODIFIER | c.1751+20812G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208837 | ||||||
| chrX:44208845
|
A | G | 1 | a0001c0001t0001g0113 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1751+20804T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44208845 | ||||||
| chrX:44209016
|
A | AGT | 1 | a0001c0001t0001g0072 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1751+20632_1751+20 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209016 | ||||||
| chrX:44209016
|
AATCTGTG | A | 1 | a0001c0001t0001g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1751+20626_1751+20 others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209016 | ||||||
| chrX:44209016
|
AATCTGTG others(1): Show |
A | 1 | a0001c0001t0001g0089 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1751+20625_1751+20 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209016 | ||||||
| chrX:44209017
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1751+20632T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209017 | ||||||
| chrX:44209019
|
C | CTG | 4 | a0001c0001t0001g0116a0001c0001t0004g0161a0001c0001t0019g0067others(1): Show | 4 | HG00558.hp2 HG00673.hp1 NA19055.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751+20628_1751+20 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
C | CTGTG | 1 | a0001c0001t0003g0088 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.1751+20626_1751+20 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
C | CTGTGTG | 2 | a0001c0001t0004g0044a0010c0012t0001g0071 | 2 | NA18970.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.1751+20624_1751+20 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
C | G | 1 | a0001c0001t0001g0072 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1751+20630G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTG | C | 7 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0040others(4): Show | 7 | HG01255.hp1 HG02145.hp1 HG02165.hp1 others(4): Show |
intron_variant | MODIFIER | c.1751+20628_1751+20 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTG | C | 11 | a0001c0001t0001g0053a0001c0001t0001g0075a0001c0001t0001g0129others(8): Show | 11 | HG02083.hp1 HG02132.hp1 HG03654.hp1 others(8): Show |
intron_variant | MODIFIER | c.1751+20626_1751+20 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTG | C | 20 | a0001c0001t0001g0052a0001c0001t0001g0065a0001c0001t0001g0068others(17): Show | 20 | HG00140.hp1 HG00558.hp1 HG01069.hp1 others(17): Show |
intron_variant | MODIFIER | c.1751+20624_1751+20 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(1): Show |
C | 12 | a0001c0001t0001g0045a0001c0001t0001g0069a0001c0001t0001g0095others(9): Show | 12 | HG00738.hp1 HG01099.hp1 HG01168.hp1 others(9): Show |
intron_variant | MODIFIER | c.1751+20622_1751+20 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(3): Show |
C | 14 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0070others(11): Show | 14 | HG01192.hp1 HG01361.hp2 HG02004.hp2 others(11): Show |
intron_variant | MODIFIER | c.1751+20620_1751+20 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(5): Show |
C | 6 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099others(3): Show | 6 | HG00280.hp1 HG02630.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751+20618_1751+20 others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(7): Show |
C | 3 | a0001c0001t0005g0084a0001c0001t0012g0032a0001c0001t0012g0033 | 3 | HG02896.hp2 HG02897.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.1751+20616_1751+20 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(9): Show |
C | 2 | a0001c0001t0008g0202a0009c0011t0014g0002 | 2 | HG03098.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.1751+20614_1751+20 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(11): Show |
C | 9 | a0001c0001t0001g0215a0001c0001t0003g0136a0001c0001t0003g0171others(6): Show | 9 | HG02040.hp1 HG02280.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.1751+20612_1751+20 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(13): Show |
C | 7 | a0001c0001t0003g0119a0001c0001t0011g0011a0001c0001t0011g0048others(4): Show | 7 | HG00621.hp1 HG04204.hp1 NA18747.hp1 others(4): Show |
intron_variant | MODIFIER | c.1751+20610_1751+20 others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(15): Show |
C | 27 | a0001c0001t0003g0037a0001c0001t0003g0046a0001c0001t0003g0051others(24): Show | 27 | HG00741.hp1 HG01168.hp2 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.1751+20608_1751+20 others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(17): Show |
C | 16 | a0001c0001t0002g0038a0001c0001t0003g0016a0001c0001t0005g0004others(13): Show | 16 | HG00438.hp2 HG02280.hp2 HG02886.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+20606_1751+20 others(30): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(19): Show |
C | 17 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(14): Show | 17 | HG02258.hp1 HG02451.hp2 HG02523.hp2 others(14): Show |
intron_variant | MODIFIER | c.1751+20604_1751+20 others(32): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(21): Show |
C | 6 | a0001c0001t0002g0197a0001c0001t0007g0115a0001c0001t0009g0158others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG01361.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751+20602_1751+20 others(34): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(23): Show |
C | 45 | a0001c0001t0001g0194a0001c0001t0002g0082a0001c0001t0002g0096others(42): Show | 45 | HG00438.hp1 HG00642.hp1 HG01070.hp1 others(42): Show |
intron_variant | MODIFIER | c.1751+20600_1751+20 others(36): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(25): Show |
C | 1 | a0001c0001t0002g0064 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1751+20598_1751+20 others(38): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(29): Show |
C | 1 | a0001c0001t0001g0196 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1751+20594_1751+20 others(42): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209019
|
CTGTGTGT others(31): Show |
C | 2 | a0001c0001t0003g0154a0001c0001t0003g0220 | 2 | NA18953.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.1751+20592_1751+20 others(44): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209019 | ||||||
| chrX:44209024
|
T | G | 1 | a0001c0001t0001g0132 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1751+20625A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209024 | ||||||
| chrX:44209062
|
T | C | 2 | a0001c0001t0003g0037a0001c0001t0006g0036 | 2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1751+20587A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209062 | ||||||
| chrX:44209144
|
ATGT | A | 1 | a0001c0001t0006g0023 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1751+20502_1751+20 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209144 | ||||||
| chrX:44209561
|
A | G | 41 | a0001c0001t0003g0016a0001c0001t0003g0037a0001c0001t0003g0046others(38): Show | 41 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(38): Show |
intron_variant | MODIFIER | c.1751+20088T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209561 | ||||||
| chrX:44209639
|
A | G | 3 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080 | 3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1751+20010T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209639 | ||||||
| chrX:44209702
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1751+19947C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209702 | ||||||
| chrX:44209790
|
C | G | 2 | a0001c0001t0003g0037a0001c0001t0006g0036 | 2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1751+19859G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209790 | ||||||
| chrX:44209832
|
A | G | 128 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(125): Show | 128 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(125): Show |
intron_variant | MODIFIER | c.1751+19817T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209832 | ||||||
| chrX:44209897
|
C | T | 1 | a0001c0001t0003g0183 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1751+19752G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209897 | ||||||
| chrX:44209943
|
A | G | 2 | a0003c0003t0002g0186a0003c0003t0002g0187 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1751+19706T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44209943 | ||||||
| chrX:44210069
|
T | C | 105 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(102): Show | 105 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.1751+19580A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210069 | ||||||
| chrX:44210081
|
T | G | 1 | a0001c0001t0004g0156 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1751+19568A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210081 | ||||||
| chrX:44210119
|
G | A | 47 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(44): Show | 47 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.1751+19530C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210119 | ||||||
| chrX:44210133
|
T | G | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1751+19516A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210133 | ||||||
| chrX:44210397
|
A | G | 17 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(14): Show | 17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1751+19252T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210397 | ||||||
| chrX:44210576
|
T | C | 2 | a0001c0001t0003g0016a0001c0001t0011g0011 | 2 | HG03041.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1751+19073A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210576 | ||||||
| chrX:44210906
|
A | T | 30 | a0001c0001t0002g0064a0001c0001t0002g0081a0001c0001t0002g0082others(27): Show | 30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1751+18743T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44210906 | ||||||
| chrX:44211380
|
T | C | 58 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(55): Show | 58 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(55): Show |
intron_variant | MODIFIER | c.1751+18269A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211380 | ||||||
| chrX:44211444
|
C | T | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+18205G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211444 | ||||||
| chrX:44211561
|
G | T | 1 | a0001c0001t0001g0195 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1751+18088C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211561 | ||||||
| chrX:44211705
|
C | CA | 1 | a0001c0001t0005g0083 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1751+17943dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211705 | ||||||
| chrX:44211866
|
C | CA | 37 | a0001c0001t0001g0010a0001c0001t0001g0113a0001c0001t0001g0123others(34): Show | 37 | HG00609.hp1 HG00621.hp1 HG00741.hp1 others(34): Show |
intron_variant | MODIFIER | c.1751+17782dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211866 | ||||||
| chrX:44211866
|
C | CAA | 2 | a0001c0001t0006g0170a0001c0001t0011g0049 | 2 | NA19010.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.1751+17781_1751+17 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211866 | ||||||
| chrX:44211866
|
CA | C | 4 | a0001c0001t0001g0045a0001c0001t0001g0211a0001c0001t0002g0064others(1): Show | 4 | HG01070.hp1 HG02965.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751+17782delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211866 | ||||||
| chrX:44211866
|
CAA | C | 18 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(15): Show | 18 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(15): Show |
intron_variant | MODIFIER | c.1751+17781_1751+17 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211866 | ||||||
| chrX:44211894
|
TG | T | 1 | a0001c0001t0006g0078 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1751+17754delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44211894 | ||||||
| chrX:44212092
|
T | C | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1751+17557A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212092 | ||||||
| chrX:44212158
|
A | AG | 1 | a0001c0001t0006g0170 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1751+17490dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212158 | ||||||
| chrX:44212222
|
A | T | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1751+17427T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212222 | ||||||
| chrX:44212245
|
C | A | 16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+17404G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212245 | ||||||
| chrX:44212310
|
A | G | 3 | a0005c0005t0001g0143a0005c0005t0001g0144a0010c0012t0001g0071 | 3 | NA18970.hp1 NA18990.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1751+17339T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212310 | ||||||
| chrX:44212311
|
A | G | 3 | a0005c0005t0001g0143a0005c0005t0001g0144a0010c0012t0001g0071 | 3 | NA18970.hp1 NA18990.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1751+17338T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212311 | ||||||
| chrX:44212562
|
A | AG | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1751+17086dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212562 | ||||||
| chrX:44212574
|
G | A | 5 | a0001c0001t0001g0085a0001c0001t0004g0105a0006c0007t0002g0025others(2): Show | 5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+17075C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212574 | ||||||
| chrX:44212864
|
A | AC | 1 | a0001c0001t0007g0124 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1751+16784dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212864 | ||||||
| chrX:44212994
|
T | C | 132 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(129): Show | 132 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(129): Show |
intron_variant | MODIFIER | c.1751+16655A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44212994 | ||||||
| chrX:44213082
|
C | CA | 1 | a0001c0001t0001g0012 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1751+16566dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213082 | ||||||
| chrX:44213082
|
CA | C | 48 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(45): Show | 48 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(45): Show |
intron_variant | MODIFIER | c.1751+16566delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213082 | ||||||
| chrX:44213136
|
A | G | 1 | a0001c0001t0002g0197 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1751+16513T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213136 | ||||||
| chrX:44213325
|
C | T | 1 | a0001c0001t0001g0089 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1751+16324G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213325 | ||||||
| chrX:44213409
|
T | C | 47 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(44): Show | 47 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(44): Show |
intron_variant | MODIFIER | c.1751+16240A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213409 | ||||||
| chrX:44213785
|
G | A | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+15864C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213785 | ||||||
| chrX:44213908
|
T | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1751+15741A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44213908 | ||||||
| chrX:44214259
|
T | A | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1751+15390A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214259 | ||||||
| chrX:44214263
|
G | A | 17 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(14): Show | 17 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(14): Show |
intron_variant | MODIFIER | c.1751+15386C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214263 | ||||||
| chrX:44214455
|
C | T | 5 | a0001c0001t0001g0085a0001c0001t0004g0105a0006c0007t0002g0025others(2): Show | 5 | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+15194G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214455 | ||||||
| chrX:44214624
|
G | A | 1 | a0001c0001t0005g0169 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1751+15025C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214624 | ||||||
| chrX:44214864
|
G | C | 1 | a0001c0001t0001g0074 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1751+14785C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214864 | ||||||
| chrX:44214923
|
T | C | 1 | a0003c0003t0002g0061 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1751+14726A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44214923 | ||||||
| chrX:44215091
|
G | A | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+14558C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215091 | ||||||
| chrX:44215142
|
C | T | 1 | a0001c0001t0001g0008 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1751+14507G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215142 | ||||||
| chrX:44215194
|
C | T | 1 | a0001c0001t0019g0067 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1751+14455G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215194 | ||||||
| chrX:44215503
|
T | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+14146A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215503 | ||||||
| chrX:44215529
|
T | TG | 2 | a0001c0001t0001g0151a0001c0001t0001g0152 | 2 | HG00140.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.1751+14119dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215529 | ||||||
| chrX:44215529
|
TG | T | 16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+14119delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215529 | ||||||
| chrX:44215531
|
G | C | 2 | a0001c0001t0002g0038a0001c0001t0007g0115 | 2 | HG03209.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.1751+14118C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44215531 | ||||||
| chrX:44216028
|
C | T | 16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+13621G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216028 | ||||||
| chrX:44216163
|
T | TA | 1 | a0001c0001t0006g0170 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1751+13485dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216163 | ||||||
| chrX:44216370
|
G | A | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+13279C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216370 | ||||||
| chrX:44216421
|
G | A | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+13228C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216421 | ||||||
| chrX:44216439
|
C | T | 16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+13210G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216439 | ||||||
| chrX:44216699
|
T | C | 3 | a0001c0001t0005g0091a0001c0001t0005g0169a0001c0001t0005g0212 | 3 | NA18977.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.1751+12950A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216699 | ||||||
| chrX:44216746
|
G | T | 1 | a0002c0002t0007g0217 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1751+12903C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216746 | ||||||
| chrX:44216764
|
T | C | 27 | a0001c0001t0002g0064a0001c0001t0002g0082a0001c0001t0002g0096others(24): Show | 27 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.1751+12885A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216764 | ||||||
| chrX:44216858
|
A | G | 1 | a0001c0001t0003g0183 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1751+12791T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44216858 | ||||||
| chrX:44217014
|
C | A | 1 | a0001c0001t0005g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1751+12635G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217014 | ||||||
| chrX:44217507
|
G | A | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1751+12142C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217507 | ||||||
| chrX:44217810
|
C | T | 1 | a0001c0001t0001g0012 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1751+11839G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217810 | ||||||
| chrX:44217893
|
C | T | 5 | a0001c0001t0004g0066a0001c0001t0004g0094a0001c0001t0004g0134others(2): Show | 5 | HG01261.hp1 HG01361.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+11756G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44217893 | ||||||
| chrX:44218002
|
T | A | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+11647A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44218002 | ||||||
| chrX:44218250
|
A | C | 1 | a0004c0004t0002g0022 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1751+11399T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44218250 | ||||||
| chrX:44218365
|
G | GA | 3 | a0004c0004t0002g0027a0004c0004t0002g0028a0011c0013t0016g0157 | 3 | HG02809.hp1 NA19055.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1751+11283dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44218365 | ||||||
| chrX:44219145
|
T | TA | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1751+10503dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | ||||||
| chrX:44219145
|
T | TAAA | 5 | a0001c0001t0001g0006a0001c0001t0001g0076a0001c0001t0001g0103others(2): Show | 5 | HG01169.hp1 HG02258.hp1 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.1751+10501_1751+10 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | ||||||
| chrX:44219145
|
T | TAAAA | 49 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0074others(46): Show | 49 | HG00438.hp2 HG01070.hp1 HG01071.hp2 others(46): Show |
intron_variant | MODIFIER | c.1751+10500_1751+10 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | ||||||
| chrX:44219145
|
T | TAAAAA | 63 | a0001c0001t0001g0194a0001c0001t0002g0064a0001c0001t0002g0082others(60): Show | 63 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(60): Show |
intron_variant | MODIFIER | c.1751+10499_1751+10 others(11): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | ||||||
| chrX:44219145
|
T | TAAAAAA | 11 | a0001c0001t0001g0085a0001c0001t0002g0038a0001c0001t0003g0154others(8): Show | 11 | HG02523.hp2 HG02572.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.1751+10498_1751+10 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | ||||||
| chrX:44219145
|
TA | T | 5 | a0001c0001t0001g0113a0001c0001t0001g0167a0005c0005t0001g0143others(2): Show | 5 | HG00609.hp1 HG02165.hp1 NA18970.hp1 others(2): Show |
intron_variant | MODIFIER | c.1751+10503delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219145 | ||||||
| chrX:44219518
|
A | G | 17 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(14): Show | 17 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(14): Show |
intron_variant | MODIFIER | c.1751+10131T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219518 | ||||||
| chrX:44219659
|
G | A | 2 | a0001c0001t0001g0093a0001c0001t0001g0214 | 2 | HG02129.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.1751+9990C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219659 | ||||||
| chrX:44219721
|
CTT | C | 1 | a0003c0003t0002g0109 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1751+9926_1751+992 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219721 | ||||||
| chrX:44219723
|
T | C | 16 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(13): Show | 16 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+9926A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219723 | ||||||
| chrX:44219725
|
G | C | 1 | a0003c0003t0002g0109 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1751+9924C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219725 | ||||||
| chrX:44219734
|
G | T | 16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+9915C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219734 | ||||||
| chrX:44219867
|
C | T | 1 | a0001c0001t0006g0043 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1751+9782G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219867 | ||||||
| chrX:44219952
|
C | T | 7 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0074others(4): Show | 7 | HG02280.hp2 HG02451.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.1751+9697G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44219952 | ||||||
| chrX:44220053
|
T | TA | 1 | a0001c0001t0005g0084 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.1751+9595dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44220053 | ||||||
| chrX:44220212
|
C | T | 204 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(201): Show | 204 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.1751+9437G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44220212 | ||||||
| chrX:44220526
|
T | C | 30 | a0001c0001t0002g0064a0001c0001t0002g0081a0001c0001t0002g0082others(27): Show | 30 | HG00438.hp1 HG00642.hp1 HG01074.hp1 others(27): Show |
intron_variant | MODIFIER | c.1751+9123A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44220526 | ||||||
| chrX:44220648
|
C | A | 127 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(124): Show | 127 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(124): Show |
intron_variant | MODIFIER | c.1751+9001G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44220648 | ||||||
| chrX:44221143
|
G | C | 128 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(125): Show | 128 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(125): Show |
intron_variant | MODIFIER | c.1751+8506C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221143 | ||||||
| chrX:44221269
|
G | T | 16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(13): Show |
intron_variant | MODIFIER | c.1751+8380C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221269 | ||||||
| chrX:44221347
|
A | G | 1 | a0001c0006t0006g0106 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1751+8302T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221347 | ||||||
| chrX:44221368
|
G | A | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1751+8281C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221368 | ||||||
| chrX:44221373
|
C | A | 3 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099 | 3 | HG02976.hp1 HG03139.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1751+8276G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221373 | ||||||
| chrX:44221434
|
G | T | 1 | a0001c0001t0001g0159 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1751+8215C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221434 | ||||||
| chrX:44221572
|
A | C | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+8077T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221572 | ||||||
| chrX:44221713
|
A | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1751+7936T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221713 | ||||||
| chrX:44221763
|
C | T | 10 | a0002c0002t0002g0181a0003c0003t0002g0020a0003c0003t0002g0054others(7): Show | 10 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.1751+7886G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44221763 | ||||||
| chrX:44222105
|
T | C | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1751+7544A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222105 | ||||||
| chrX:44222162
|
T | C | 1 | a0001c0001t0008g0199 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1751+7487A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222162 | ||||||
| chrX:44222356
|
A | G | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+7293T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222356 | ||||||
| chrX:44222445
|
A | G | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1751+7204T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222445 | ||||||
| chrX:44222474
|
G | A | 53 | a0001c0001t0001g0194a0001c0001t0002g0064a0001c0001t0002g0081others(50): Show | 53 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.1751+7175C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222474 | ||||||
| chrX:44222586
|
C | A | 1 | a0001c0001t0005g0192 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1751+7063G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222586 | ||||||
| chrX:44222606
|
A | G | 1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1751+7043T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222606 | ||||||
| chrX:44222885
|
T | A | 3 | a0001c0001t0002g0064a0001c0001t0002g0097a0001c0001t0002g0098 | 3 | HG00642.hp1 HG01081.hp2 HG03490.hp1 |
intron_variant | MODIFIER | c.1751+6764A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44222885 | ||||||
| chrX:44223135
|
T | A | 16 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(13): Show | 16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+6514A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223135 | ||||||
| chrX:44223137
|
A | G | 16 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(13): Show | 16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+6512T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223137 | ||||||
| chrX:44223211
|
C | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+6438G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223211 | ||||||
| chrX:44223449
|
T | C | 16 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(13): Show | 16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+6200A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223449 | ||||||
| chrX:44223505
|
C | CT | 118 | a0001c0001t0001g0085a0001c0001t0001g0194a0001c0001t0002g0038others(115): Show | 118 | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(115): Show |
intron_variant | MODIFIER | c.1751+6143dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223505 | ||||||
| chrX:44223505
|
C | CTT | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.1751+6142_1751+614 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223505 | ||||||
| chrX:44223505
|
C | CTTT | 1 | a0001c0001t0001g0103 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1751+6141_1751+614 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223505 | ||||||
| chrX:44223577
|
C | T | 6 | a0001c0001t0001g0194a0001c0001t0009g0007a0001c0001t0009g0009others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1751+6072G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223577 | ||||||
| chrX:44223614
|
T | A | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.1751+6035A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223614 | ||||||
| chrX:44223888
|
A | AAC | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1751+5759_1751+576 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223888 | ||||||
| chrX:44223898
|
G | A | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1751+5751C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44223898 | ||||||
| chrX:44224308
|
T | C | 4 | a0001c0001t0002g0064a0001c0001t0002g0097a0001c0001t0002g0098others(1): Show | 4 | HG00642.hp1 HG01081.hp2 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751+5341A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224308 | ||||||
| chrX:44224394
|
C | T | 2 | a0001c0001t0001g0085a0001c0001t0004g0105 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1751+5255G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224394 | ||||||
| chrX:44224449
|
G | A | 53 | a0001c0001t0001g0194a0001c0001t0002g0064a0001c0001t0002g0081others(50): Show | 53 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.1751+5200C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224449 | ||||||
| chrX:44224691
|
C | G | 2 | a0001c0001t0003g0037a0001c0001t0006g0036 | 2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.1751+4958G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224691 | ||||||
| chrX:44224752
|
G | C | 39 | a0001c0001t0003g0016a0001c0001t0003g0046a0001c0001t0003g0051others(36): Show | 39 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(36): Show |
intron_variant | MODIFIER | c.1751+4897C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224752 | ||||||
| chrX:44224902
|
G | C | 12 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(9): Show | 12 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1751+4747C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224902 | ||||||
| chrX:44224910
|
GTGC | G | 58 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(55): Show | 58 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(55): Show |
intron_variant | MODIFIER | c.1751+4736_1751+473 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44224910 | ||||||
| chrX:44225118
|
G | A | 3 | a0001c0001t0002g0081a0001c0001t0002g0107a0001c0001t0002g0197 | 3 | HG02886.hp1 HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1751+4531C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225118 | ||||||
| chrX:44225123
|
G | A | 74 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(71): Show | 74 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.1751+4526C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225123 | ||||||
| chrX:44225166
|
C | T | 74 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(71): Show | 74 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.1751+4483G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225166 | ||||||
| chrX:44225167
|
T | C | 74 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(71): Show | 74 | HG00438.hp2 HG00621.hp1 HG00741.hp1 others(71): Show |
intron_variant | MODIFIER | c.1751+4482A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225167 | ||||||
| chrX:44225250
|
T | TA | 58 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(55): Show | 58 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(55): Show |
intron_variant | MODIFIER | c.1751+4398dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225250 | ||||||
| chrX:44225250
|
T | TAA | 15 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(12): Show | 15 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(12): Show |
intron_variant | MODIFIER | c.1751+4397_1751+439 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225250 | ||||||
| chrX:44225250
|
TA | T | 5 | a0001c0001t0012g0033a0002c0002t0004g0207a0002c0002t0004g0209others(2): Show | 5 | HG02074.hp1 HG02897.hp2 NA18939.hp2 others(2): Show |
intron_variant | MODIFIER | c.1751+4398delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225250 | ||||||
| chrX:44225371
|
T | C | 6 | a0001c0001t0001g0194a0001c0001t0009g0007a0001c0001t0009g0009others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.1751+4278A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225371 | ||||||
| chrX:44225395
|
G | T | 12 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(9): Show | 12 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1751+4254C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225395 | ||||||
| chrX:44225449
|
G | C | 91 | a0001c0001t0001g0194a0001c0001t0002g0064a0001c0001t0002g0081others(88): Show | 91 | HG00438.hp1 HG00621.hp1 HG00642.hp1 others(88): Show |
intron_variant | MODIFIER | c.1751+4200C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225449 | ||||||
| chrX:44225479
|
C | T | 3 | a0001c0001t0001g0085a0001c0001t0004g0105a0001c0001t0011g0011 | 3 | HG02630.hp1 HG03471.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1751+4170G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225479 | ||||||
| chrX:44225571
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1751+4078C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44225571 | ||||||
| chrX:44226240
|
A | C | 1 | a0001c0001t0001g0214 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1751+3409T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226240 | ||||||
| chrX:44226581
|
G | A | 18 | a0001c0001t0002g0064a0001c0001t0002g0082a0001c0001t0002g0096others(15): Show | 18 | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.1751+3068C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226581 | ||||||
| chrX:44226886
|
A | C | 1 | a0001c0001t0019g0067 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1751+2763T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226886 | ||||||
| chrX:44226896
|
AAAAAAG | A | 6 | a0001c0001t0002g0038a0001c0001t0007g0115a0001c0001t0011g0011others(3): Show | 6 | HG02572.hp1 HG02818.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1751+2747_1751+275 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226896 | ||||||
| chrX:44226923
|
A | T | 37 | a0001c0001t0003g0037a0001c0001t0003g0046a0001c0001t0003g0051others(34): Show | 37 | HG00621.hp1 HG00741.hp1 HG01168.hp2 others(34): Show |
intron_variant | MODIFIER | c.1751+2726T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44226923 | ||||||
| chrX:44227893
|
C | T | 16 | a0001c0001t0005g0004a0001c0001t0005g0039a0001c0001t0005g0083others(13): Show | 16 | HG00438.hp2 NA18940.hp1 NA18945.hp1 others(13): Show |
intron_variant | MODIFIER | c.1751+1756G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44227893 | ||||||
| chrX:44228508
|
C | T | 1 | a0001c0015t0003g0047 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.1751+1141G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44228508 | ||||||
| chrX:44228977
|
C | T | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1751+672G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44228977 | ||||||
| chrX:44229313
|
G | A | 48 | a0001c0001t0001g0194a0001c0001t0002g0064a0001c0001t0002g0081others(45): Show | 48 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(45): Show |
intron_variant | MODIFIER | c.1751+336C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44229313 | ||||||
| chrX:44229476
|
G | A | 10 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0003g0016others(7): Show | 10 | HG01243.hp1 HG01255.hp1 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.1751+173C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44229476 | ||||||
| chrX:44229609
|
T | C | 1 | a0001c0001t0003g0174 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1751+40A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | 44229609 | ||||||
| chrX:44230286
|
G | A | 4 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0003g0016others(1): Show | 4 | HG01255.hp1 HG02886.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1621-507C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230286 | ||||||
| chrX:44230299
|
G | A | 5 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0003g0016others(2): Show | 5 | HG01243.hp1 HG01255.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1621-520C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230299 | ||||||
| chrX:44230512
|
C | CT | 1 | a0002c0002t0004g0207 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1621-734dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230512 | ||||||
| chrX:44230714
|
G | GA | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1621-936dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230714 | ||||||
| chrX:44230714
|
GA | G | 1 | a0001c0001t0001g0034 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1621-936delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230714 | ||||||
| chrX:44230856
|
G | A | 1 | a0001c0001t0003g0138 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1621-1077C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44230856 | ||||||
| chrX:44231307
|
T | A | 5 | a0001c0001t0005g0091a0001c0001t0005g0169a0001c0001t0005g0192others(2): Show | 5 | NA18970.hp1 NA18977.hp1 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1620+1174A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231307 | ||||||
| chrX:44231572
|
A | C | 5 | a0001c0001t0005g0091a0001c0001t0005g0169a0001c0001t0005g0192others(2): Show | 5 | NA18970.hp1 NA18977.hp1 NA18981.hp2 others(2): Show |
intron_variant | MODIFIER | c.1620+909T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231572 | ||||||
| chrX:44231604
|
G | A | 1 | a0003c0003t0002g0100 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1620+877C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231604 | ||||||
| chrX:44231684
|
C | T | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1620+797G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231684 | ||||||
| chrX:44231941
|
CA | C | 1 | a0001c0001t0005g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1620+539delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44231941 | ||||||
| chrX:44232029
|
T | C | 204 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(201): Show | 204 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(201): Show |
intron_variant | MODIFIER | c.1620+452A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44232029 | ||||||
| chrX:44232090
|
G | A | 13 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(10): Show | 13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1620+391C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44232090 | ||||||
| chrX:44232106
|
TAACTGGG | T | 1 | a0001c0001t0001g0206 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1620+368_1620+374d others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44232106 | ||||||
| chrX:44232252
|
C | T | 1 | a0002c0002t0002g0062 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.1620+229G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 10/14 | chrX | 44232252 | ||||||
| chrX:44232713
|
T | G | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1424-36A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44232713 | ||||||
| chrX:44232974
|
G | A | 1 | a0002c0002t0004g0207 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1424-297C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44232974 | ||||||
| chrX:44233019
|
G | A | 1 | a0001c0001t0001g0010 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1424-342C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44233019 | ||||||
| chrX:44233783
|
C | T | 5 | a0001c0001t0001g0195a0001c0001t0001g0196a0001c0001t0008g0031others(2): Show | 5 | HG02280.hp1 HG02630.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1424-1106G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44233783 | ||||||
| chrX:44233806
|
T | A | 10 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0003g0016others(7): Show | 10 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.1424-1129A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44233806 | ||||||
| chrX:44233982
|
T | TC | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1424-1306dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44233982 | ||||||
| chrX:44234022
|
A | G | 80 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(77): Show | 80 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(77): Show |
intron_variant | MODIFIER | c.1423+1283T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234022 | ||||||
| chrX:44234262
|
A | T | 2 | a0001c0001t0001g0145a0001c0001t0001g0146 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.1423+1043T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234262 | ||||||
| chrX:44234307
|
T | TC | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1423+997dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234307 | ||||||
| chrX:44234394
|
G | GA | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1423+910dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234394 | ||||||
| chrX:44234408
|
A | G | 1 | a0001c0001t0001g0040 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1423+897T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234408 | ||||||
| chrX:44234524
|
T | TA | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1423+780dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234524 | ||||||
| chrX:44234659
|
A | AT | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1423+645dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234659 | ||||||
| chrX:44234800
|
C | T | 2 | a0001c0001t0001g0112a0001c0001t0001g0189 | 2 | HG01099.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1423+505G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234800 | ||||||
| chrX:44234999
|
G | GA | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1423+305dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44234999 | ||||||
| chrX:44235045
|
T | TG | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1423+259dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44235045 | ||||||
| chrX:44235085
|
G | GC | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1423+219dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44235085 | ||||||
| chrX:44235177
|
G | GT | 2 | a0001c0001t0011g0011a0009c0011t0014g0002 | 2 | NA18967.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1423+127dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 9/14 | chrX | 44235177 | ||||||
| chrX:44235689
|
C | CA | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1281-243dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44235689 | ||||||
| chrX:44235701
|
C | CAA | 1 | a0001c0001t0006g0005 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1281-255_1281-254i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44235701 | ||||||
| chrX:44235703
|
T | A | 1 | a0001c0001t0006g0005 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1281-256A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44235703 | ||||||
| chrX:44235710
|
A | T | 1 | a0001c0001t0006g0005 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1281-263T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44235710 | ||||||
| chrX:44235716
|
C | CA | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1281-270dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44235716 | ||||||
| chrX:44236019
|
C | CT | 2 | a0001c0001t0003g0016a0001c0001t0018g0019 | 2 | HG01243.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1281-573dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236019 | ||||||
| chrX:44236019
|
C | CTT | 11 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0002g0038others(8): Show | 11 | HG01169.hp1 HG01255.hp1 HG01361.hp1 others(8): Show |
intron_variant | MODIFIER | c.1281-574_1281-573d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236019 | ||||||
| chrX:44236019
|
CT | C | 3 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0146 | 3 | HG01069.hp1 HG02818.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1281-573delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236019 | ||||||
| chrX:44236303
|
T | C | 1 | a0001c0001t0003g0051 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1281-856A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236303 | ||||||
| chrX:44236378
|
G | A | 2 | a0001c0001t0009g0007a0001c0001t0009g0009 | 2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1281-931C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236378 | ||||||
| chrX:44236605
|
C | A | 3 | a0001c0001t0001g0085a0001c0001t0004g0105a0001c0001t0011g0011 | 3 | HG02630.hp1 HG03471.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1281-1158G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44236605 | ||||||
| chrX:44238961
|
C | G | 2 | a0001c0001t0009g0007a0001c0001t0009g0009 | 2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.1280+3160G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44238961 | ||||||
| chrX:44239153
|
G | A | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1280+2968C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239153 | ||||||
| chrX:44239177
|
A | G | 21 | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0194others(18): Show | 21 | HG00741.hp2 HG01070.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.1280+2944T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239177 | ||||||
| chrX:44239380
|
G | A | 3 | a0001c0001t0003g0046a0001c0001t0003g0147a0001c0015t0003g0047 | 3 | HG01168.hp2 HG01981.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1280+2741C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239380 | ||||||
| chrX:44239523
|
G | A | 4 | a0001c0001t0001g0194a0001c0001t0009g0158a0001c0001t0009g0179others(1): Show | 4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1280+2598C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239523 | ||||||
| chrX:44239585
|
T | C | 7 | a0001c0001t0001g0085a0001c0001t0004g0105a0001c0001t0009g0007others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.1280+2536A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239585 | ||||||
| chrX:44239767
|
T | C | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1280+2354A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44239767 | ||||||
| chrX:44240150
|
T | C | 4 | a0001c0001t0001g0211a0001c0001t0002g0038a0001c0001t0003g0037others(1): Show | 4 | HG01169.hp1 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1280+1971A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44240150 | ||||||
| chrX:44240161
|
A | G | 1 | a0001c0001t0001g0214 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1280+1960T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44240161 | ||||||
| chrX:44240819
|
T | C | 1 | a0001c0001t0006g0023 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1280+1302A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44240819 | ||||||
| chrX:44240828
|
TACA | T | 1 | a0001c0001t0005g0178 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1280+1290_1280+129 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44240828 | ||||||
| chrX:44241213
|
TC | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1280+907delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241213 | ||||||
| chrX:44241256
|
TC | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1280+864delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241256 | ||||||
| chrX:44241410
|
CA | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1280+710delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241410 | ||||||
| chrX:44241587
|
G | A | 2 | a0001c0001t0001g0010a0001c0001t0010g0193 | 2 | HG02145.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.1280+534C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241587 | ||||||
| chrX:44241596
|
G | A | 75 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(72): Show | 75 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.1280+525C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241596 | ||||||
| chrX:44241757
|
C | T | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1280+364G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241757 | ||||||
| chrX:44241869
|
T | C | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1280+252A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241869 | ||||||
| chrX:44241891
|
G | A | 2 | a0008c0010t0003g0172a0008c0010t0006g0163 | 2 | NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.1280+230C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241891 | ||||||
| chrX:44241893
|
GATA | G | 9 | a0001c0001t0003g0208a0001c0001t0005g0004a0001c0001t0005g0039others(6): Show | 9 | HG00438.hp2 NA18940.hp1 NA18961.hp1 others(6): Show |
intron_variant | MODIFIER | c.1280+225_1280+227d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241893 | ||||||
| chrX:44241907
|
AG | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1280+213delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241907 | ||||||
| chrX:44241961
|
T | A | 13 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(10): Show | 13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.1280+160A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44241961 | ||||||
| chrX:44242038
|
A | AT | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1280+82dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44242038 | ||||||
| chrX:44242075
|
A | AT | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1280+45_1280+46ins others(1): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44242075 | ||||||
| chrX:44242119
|
AC | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | splice_donor_variant&intron_variant | HIGH | c.1280+1delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 8/14 | chrX | 44242119 | ||||||
| chrX:44242365
|
T | C | 1 | a0002c0002t0007g0155 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1112-76A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242365 | ||||||
| chrX:44242506
|
T | TA | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.1112-218dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242506 | ||||||
| chrX:44242506
|
TA | T | 5 | a0001c0001t0001g0123a0001c0001t0002g0064a0001c0001t0003g0218others(2): Show | 5 | HG01070.hp2 HG01168.hp1 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.1112-218delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242506 | ||||||
| chrX:44242563
|
A | G | 4 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080others(1): Show | 4 | HG01934.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1112-274T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242563 | ||||||
| chrX:44242565
|
TC | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1112-277delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242565 | ||||||
| chrX:44242568
|
C | T | 1 | a0001c0001t0008g0202 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1112-279G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242568 | ||||||
| chrX:44242635
|
A | AG | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1112-347dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242635 | ||||||
| chrX:44242644
|
G | A | 3 | a0001c0001t0009g0158a0001c0001t0009g0179a0001c0001t0009g0198 | 3 | HG00741.hp2 HG01070.hp2 HG02451.hp1 |
intron_variant | MODIFIER | c.1112-355C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242644 | ||||||
| chrX:44242651
|
AT | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1112-363delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242651 | ||||||
| chrX:44242782
|
G | C | 75 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(72): Show | 75 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(72): Show |
intron_variant | MODIFIER | c.1112-493C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44242782 | ||||||
| chrX:44243429
|
CG | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1112-1141delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243429 | ||||||
| chrX:44243565
|
C | T | 78 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(75): Show | 78 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.1112-1276G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243565 | ||||||
| chrX:44243622
|
GC | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1112-1334delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243622 | ||||||
| chrX:44243787
|
G | C | 1 | a0001c0001t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1112-1498C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243787 | ||||||
| chrX:44243791
|
ATT | A | 21 | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0211others(18): Show | 21 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(18): Show |
intron_variant | MODIFIER | c.1112-1504_1112-150 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243791 | ||||||
| chrX:44243843
|
G | A | 1 | a0003c0003t0002g0020 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1112-1554C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243843 | ||||||
| chrX:44243894
|
A | ACTGTT | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1112-1610_1112-160 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44243894 | ||||||
| chrX:44244162
|
T | C | 1 | a0001c0001t0004g0150 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1112-1873A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44244162 | ||||||
| chrX:44244725
|
C | T | 17 | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0211others(14): Show | 17 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(14): Show |
intron_variant | MODIFIER | c.1112-2436G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44244725 | ||||||
| chrX:44244919
|
T | A | 10 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0003g0016others(7): Show | 10 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.1112-2630A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44244919 | ||||||
| chrX:44245292
|
A | G | 78 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(75): Show | 78 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.1111+2980T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44245292 | ||||||
| chrX:44245953
|
T | G | 1 | a0001c0001t0001g0114 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1111+2319A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44245953 | ||||||
| chrX:44245982
|
G | A | 2 | a0001c0006t0001g0029a0001c0006t0006g0106 | 2 | HG02280.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.1111+2290C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44245982 | ||||||
| chrX:44246036
|
C | T | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1111+2236G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246036 | ||||||
| chrX:44246374
|
T | C | 1 | a0001c0001t0003g0136 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1111+1898A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246374 | ||||||
| chrX:44246474
|
C | T | 6 | a0001c0001t0001g0085a0001c0001t0004g0105a0001c0001t0009g0007others(3): Show | 6 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.1111+1798G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246474 | ||||||
| chrX:44246514
|
C | CT | 1 | a0003c0003t0002g0109 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1111+1757dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246514 | ||||||
| chrX:44246638
|
T | C | 2 | a0001c0001t0001g0112a0001c0001t0001g0189 | 2 | HG01099.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.1111+1634A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246638 | ||||||
| chrX:44246669
|
C | T | 4 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080others(1): Show | 4 | HG01934.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1111+1603G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44246669 | ||||||
| chrX:44247868
|
G | A | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.1111+404C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44247868 | ||||||
| chrX:44248019
|
G | A | 43 | a0001c0001t0001g0194a0001c0001t0002g0081a0001c0001t0002g0082others(40): Show | 43 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.1111+253C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44248019 | ||||||
| chrX:44248053
|
T | C | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1111+219A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44248053 | ||||||
| chrX:44248124
|
TA | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1111+147delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44248124 | ||||||
| chrX:44248132
|
CA | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.1111+139delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 7/14 | chrX | 44248132 | ||||||
| chrX:44248496
|
A | C | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.973-86T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 6/14 | chrX | 44248496 | ||||||
| chrX:44248550
|
AC | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.973-141delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 6/14 | chrX | 44248550 | ||||||
| chrX:44248738
|
GC | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.972+64delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 6/14 | chrX | 44248738 | ||||||
| chrX:44249058
|
C | CT | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.859-143dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249058 | ||||||
| chrX:44249061
|
T | TA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.859-146dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249061 | ||||||
| chrX:44249375
|
CT | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.859-460delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249375 | ||||||
| chrX:44249446
|
G | GT | 8 | a0001c0001t0001g0185a0001c0001t0002g0097a0001c0001t0002g0098others(5): Show | 8 | HG00642.hp1 HG01081.hp2 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.859-531dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249446 | ||||||
| chrX:44249446
|
GT | G | 1 | a0001c0001t0005g0169 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.859-531delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249446 | ||||||
| chrX:44249486
|
GA | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.859-571delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249486 | ||||||
| chrX:44249524
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.859-608T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249524 | ||||||
| chrX:44249582
|
G | GC | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+611dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249582 | ||||||
| chrX:44249614
|
TA | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+579delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249614 | ||||||
| chrX:44249787
|
T | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+407A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249787 | ||||||
| chrX:44249793
|
C | CA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+400dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249793 | ||||||
| chrX:44249823
|
A | AC | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+370dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249823 | ||||||
| chrX:44249921
|
T | C | 1 | a0001c0001t0008g0202 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.858+273A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249921 | ||||||
| chrX:44249966
|
CT | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+227delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44249966 | ||||||
| chrX:44250034
|
C | T | 1 | a0001c0001t0018g0019 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.858+160G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44250034 | ||||||
| chrX:44250082
|
CTGCACTA others(1): Show |
C | 1 | a0001c0001t0004g0044 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.858+104_858+111del others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44250082 | ||||||
| chrX:44250131
|
TC | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.858+62delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 5/14 | chrX | 44250131 | ||||||
| chrX:44250449
|
C | CA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | splice_region_variant&intron_variant | LOW | c.607-5dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250449 | ||||||
| chrX:44250538
|
T | TA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-94_607-93insT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250538 | ||||||
| chrX:44250645
|
C | T | 1 | a0004c0004t0001g0021 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.607-200G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250645 | ||||||
| chrX:44250655
|
ACT | A | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-212_607-211del others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250655 | ||||||
| chrX:44250660
|
T | TA | 1 | a0005c0005t0001g0143 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.607-216dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250660 | ||||||
| chrX:44250660
|
TA | T | 8 | a0001c0001t0001g0015a0001c0001t0001g0065a0001c0001t0001g0146others(5): Show | 8 | HG01069.hp1 HG01943.hp1 HG02015.hp1 others(5): Show |
intron_variant | MODIFIER | c.607-216delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250660 | ||||||
| chrX:44250661
|
A | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-216T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250661 | ||||||
| chrX:44250695
|
C | CAT | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-251_607-250ins others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250695 | ||||||
| chrX:44250709
|
C | CA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-265dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250709 | ||||||
| chrX:44250825
|
G | GA | 3 | a0001c0001t0003g0088a0001c0001t0006g0043a0001c0001t0020g0102 | 3 | HG02015.hp1 HG03831.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.607-381dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250825 | ||||||
| chrX:44250825
|
GA | G | 78 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(75): Show | 78 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(75): Show |
intron_variant | MODIFIER | c.607-381delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250825 | ||||||
| chrX:44250925
|
C | A | 1 | a0001c0001t0006g0170 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.607-480G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250925 | ||||||
| chrX:44250960
|
C | T | 1 | a0001c0001t0004g0092 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.607-515G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44250960 | ||||||
| chrX:44251046
|
G | A | 12 | a0003c0003t0002g0020a0003c0003t0002g0054a0003c0003t0002g0057others(9): Show | 12 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.607-601C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251046 | ||||||
| chrX:44251061
|
A | ACC | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-618_607-617dup others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251061 | ||||||
| chrX:44251120
|
TC | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-676delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251120 | ||||||
| chrX:44251167
|
A | AG | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-723dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251167 | ||||||
| chrX:44251238
|
C | CA | 36 | a0001c0001t0001g0012a0001c0001t0001g0040a0001c0001t0001g0093others(33): Show | 36 | HG00438.hp1 HG00642.hp1 HG00741.hp2 others(33): Show |
intron_variant | MODIFIER | c.607-794dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | ||||||
| chrX:44251238
|
C | CAA | 27 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(24): Show | 27 | HG01074.hp1 HG01109.hp1 HG01358.hp1 others(24): Show |
intron_variant | MODIFIER | c.607-795_607-794dup others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | ||||||
| chrX:44251238
|
C | CAAA | 3 | a0002c0002t0002g0062a0002c0002t0004g0207a0013c0014t0023g0191 | 3 | HG01952.hp1 NA18974.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.607-796_607-794dup others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | ||||||
| chrX:44251238
|
CA | C | 4 | a0001c0001t0002g0097a0001c0001t0003g0051a0001c0001t0005g0219others(1): Show | 4 | HG01081.hp2 NA18612.hp1 NA18959.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-794delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | ||||||
| chrX:44251238
|
CAAAAAAA others(1): Show |
C | 1 | a0001c0001t0002g0197 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.607-801_607-794del others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | ||||||
| chrX:44251238
|
CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0180 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.607-806_607-794del others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251238 | ||||||
| chrX:44251275
|
C | CA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-831dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251275 | ||||||
| chrX:44251363
|
C | CA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-919dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251363 | ||||||
| chrX:44251522
|
A | AC | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-1078dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251522 | ||||||
| chrX:44251597
|
T | TA | 20 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0095others(17): Show | 20 | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.607-1153dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAA | 17 | a0001c0001t0001g0129a0001c0001t0001g0151a0001c0001t0001g0152others(14): Show | 17 | HG00140.hp1 HG00621.hp1 HG01099.hp1 others(14): Show |
intron_variant | MODIFIER | c.607-1154_607-1153d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAAA | 7 | a0001c0001t0001g0137a0001c0001t0001g0160a0001c0001t0003g0154others(4): Show | 7 | HG00673.hp1 HG01258.hp1 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.607-1155_607-1153d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAAAA | 11 | a0001c0001t0001g0013a0001c0001t0001g0053a0001c0001t0001g0086others(8): Show | 11 | HG01081.hp2 HG02015.hp1 HG02155.hp2 others(8): Show |
intron_variant | MODIFIER | c.607-1156_607-1153d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAAAAA | 7 | a0001c0001t0001g0072a0001c0001t0001g0132a0001c0001t0003g0122others(4): Show | 7 | HG02027.hp1 HG02083.hp1 HG02155.hp1 others(4): Show |
intron_variant | MODIFIER | c.607-1157_607-1153d others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAAAAAA | 4 | a0001c0001t0001g0146a0001c0001t0002g0098a0001c0001t0004g0210others(1): Show | 4 | HG00642.hp1 HG00738.hp1 HG01069.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1158_607-1153d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAAAAAAA | 4 | a0001c0001t0001g0045a0001c0001t0001g0145a0001c0001t0001g0180others(1): Show | 4 | HG01071.hp1 HG03017.hp1 HG03942.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1159_607-1153d others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAAAAAAA others(1): Show |
1 | a0001c0001t0001g0215 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.607-1160_607-1153d others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
T | TAAAAAAA others(2): Show |
1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.607-1161_607-1153d others(11): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TA | T | 8 | a0001c0001t0001g0034a0001c0001t0001g0099a0001c0001t0001g0125others(5): Show | 8 | HG00280.hp1 HG02523.hp2 HG03139.hp1 others(5): Show |
intron_variant | MODIFIER | c.607-1153delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAA | T | 2 | a0001c0001t0001g0116a0001c0001t0004g0162 | 2 | HG02071.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.607-1155_607-1153d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(2): Show |
T | 1 | a0001c0001t0001g0089 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.607-1161_607-1153d others(11): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(3): Show |
T | 2 | a0001c0001t0002g0038a0001c0001t0003g0037 | 2 | HG01169.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.607-1162_607-1153d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(4): Show |
T | 8 | a0001c0001t0001g0211a0001c0001t0005g0173a0001c0001t0006g0036others(5): Show | 8 | HG01243.hp1 HG01361.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.607-1163_607-1153d others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(5): Show |
T | 4 | a0001c0001t0006g0078a0004c0004t0002g0022a0004c0004t0002g0027others(1): Show | 4 | HG02723.hp2 HG02809.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1164_607-1153d others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(6): Show |
T | 6 | a0001c0001t0001g0085a0001c0001t0003g0016a0001c0001t0004g0105others(3): Show | 6 | HG02630.hp1 HG02896.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.607-1165_607-1153d others(15): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(7): Show |
T | 2 | a0001c0001t0001g0167a0001c0001t0004g0150 | 2 | HG01433.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.607-1166_607-1153d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(8): Show |
T | 4 | a0001c0001t0001g0065a0001c0001t0001g0130a0001c0001t0004g0063others(1): Show | 4 | HG02523.hp1 HG04115.hp1 HG04199.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1167_607-1153d others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(9): Show |
T | 1 | a0001c0001t0003g0119 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.607-1168_607-1153d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(10): Show |
T | 3 | a0001c0001t0001g0075a0001c0001t0001g0087a0001c0001t0003g0183 | 3 | HG03688.hp1 NA18986.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.607-1169_607-1153d others(19): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(11): Show |
T | 3 | a0001c0001t0001g0148a0001c0001t0012g0032a0001c0001t0012g0033 | 3 | HG02896.hp2 HG02897.hp2 NA18957.hp1 |
intron_variant | MODIFIER | c.607-1170_607-1153d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(12): Show |
T | 4 | a0001c0001t0003g0208a0001c0001t0005g0084a0001c0001t0005g0178others(1): Show | 4 | HG02280.hp1 NA18969.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.607-1171_607-1153d others(21): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(13): Show |
T | 10 | a0001c0001t0001g0200a0001c0001t0005g0004a0001c0001t0005g0039others(7): Show | 10 | HG00438.hp2 HG03098.hp1 HG03195.hp1 others(7): Show |
intron_variant | MODIFIER | c.607-1172_607-1153d others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(14): Show |
T | 3 | a0001c0001t0005g0091a0001c0001t0006g0023a0001c0001t0008g0199 | 3 | HG02886.hp2 NA18981.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.607-1173_607-1153d others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(15): Show |
T | 5 | a0001c0001t0001g0008a0001c0001t0004g0050a0001c0001t0005g0192others(2): Show | 5 | HG01255.hp1 HG03710.hp1 NA18970.hp1 others(2): Show |
intron_variant | MODIFIER | c.607-1174_607-1153d others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(16): Show |
T | 13 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(10): Show | 13 | HG01106.hp1 HG02004.hp2 HG02148.hp1 others(10): Show |
intron_variant | MODIFIER | c.607-1175_607-1153d others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(17): Show |
T | 42 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0002g0081others(39): Show | 42 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.607-1176_607-1153d others(26): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(18): Show |
T | 12 | a0001c0001t0001g0017a0001c0001t0001g0076a0001c0001t0001g0103others(9): Show | 12 | HG02258.hp1 HG02280.hp2 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.607-1177_607-1153d others(27): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251597
|
TAAAAAAA others(19): Show |
T | 1 | a0001c0001t0001g0093 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.607-1178_607-1153d others(28): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251597 | ||||||
| chrX:44251658
|
GA | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.607-1214delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251658 | ||||||
| chrX:44251735
|
A | G | 1 | a0003c0003t0002g0057 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.607-1290T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251735 | ||||||
| chrX:44251800
|
T | G | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-1355A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44251800 | ||||||
| chrX:44252243
|
G | A | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.607-1798C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252243 | ||||||
| chrX:44252406
|
C | T | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.607-1961G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252406 | ||||||
| chrX:44252982
|
C | T | 1 | a0001c0001t0006g0023 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.607-2537G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252982 | ||||||
| chrX:44252998
|
G | A | 1 | a0001c0001t0005g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.607-2553C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44252998 | ||||||
| chrX:44253014
|
C | T | 1 | a0001c0001t0011g0049 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.607-2569G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253014 | ||||||
| chrX:44253234
|
G | GT | 6 | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0148others(3): Show | 6 | HG02055.hp1 HG02647.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.607-2790dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253234 | ||||||
| chrX:44253234
|
GT | G | 46 | a0001c0001t0002g0081a0001c0001t0002g0082a0001c0001t0002g0096others(43): Show | 46 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.607-2790delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253234 | ||||||
| chrX:44253234
|
GTT | G | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.607-2791_607-2790d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253234 | ||||||
| chrX:44253402
|
C | A | 2 | a0001c0001t0001g0112a0001c0001t0001g0189 | 2 | HG01099.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.607-2957G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253402 | ||||||
| chrX:44253941
|
G | C | 10 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0003g0016others(7): Show | 10 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(7): Show |
intron_variant | MODIFIER | c.607-3496C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253941 | ||||||
| chrX:44253964
|
A | G | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.607-3519T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44253964 | ||||||
| chrX:44254314
|
C | A | 6 | a0001c0001t0004g0066a0001c0001t0004g0094a0001c0001t0004g0134others(3): Show | 6 | HG01261.hp1 HG01361.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.607-3869G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254314 | ||||||
| chrX:44254444
|
G | GA | 1 | a0001c0001t0015g0003 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.607-4000dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254444 | ||||||
| chrX:44254553
|
C | T | 1 | a0001c0001t0005g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.607-4108G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254553 | ||||||
| chrX:44254616
|
G | A | 9 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0006g0023others(6): Show | 9 | HG01243.hp1 HG01255.hp1 HG01361.hp1 others(6): Show |
intron_variant | MODIFIER | c.607-4171C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254616 | ||||||
| chrX:44254757
|
T | C | 13 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0002g0038others(10): Show | 13 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(10): Show |
intron_variant | MODIFIER | c.607-4312A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254757 | ||||||
| chrX:44254776
|
C | T | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.607-4331G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254776 | ||||||
| chrX:44254986
|
A | G | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.607-4541T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44254986 | ||||||
| chrX:44255053
|
C | G | 7 | a0001c0001t0001g0085a0001c0001t0004g0105a0001c0001t0009g0007others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.607-4608G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255053 | ||||||
| chrX:44255249
|
A | G | 4 | a0001c0001t0001g0194a0001c0001t0009g0158a0001c0001t0009g0179others(1): Show | 4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-4804T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255249 | ||||||
| chrX:44255359
|
G | A | 1 | a0001c0001t0001g0068 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.607-4914C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255359 | ||||||
| chrX:44255509
|
G | C | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.607-5064C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255509 | ||||||
| chrX:44255778
|
T | C | 2 | a0001c0001t0001g0116a0001c0001t0021g0131 | 2 | NA19070.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.606+5297A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255778 | ||||||
| chrX:44255875
|
T | TA | 1 | a0001c0001t0015g0003 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.606+5199dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255875 | ||||||
| chrX:44255953
|
A | T | 3 | a0001c0001t0001g0200a0001c0001t0008g0199a0001c0001t0008g0202 | 3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.606+5122T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44255953 | ||||||
| chrX:44256528
|
C | G | 1 | a0001c0001t0005g0169 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.606+4547G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256528 | ||||||
| chrX:44256678
|
T | G | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.606+4397A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256678 | ||||||
| chrX:44256825
|
C | CACA | 83 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(80): Show | 83 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(80): Show |
intron_variant | MODIFIER | c.606+4247_606+4249d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256825 | ||||||
| chrX:44256868
|
TC | T | 1 | a0001c0001t0005g0219 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.606+4206delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256868 | ||||||
| chrX:44256882
|
T | C | 24 | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0211others(21): Show | 24 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.606+4193A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256882 | ||||||
| chrX:44256887
|
C | T | 58 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(55): Show | 58 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(55): Show |
intron_variant | MODIFIER | c.606+4188G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44256887 | ||||||
| chrX:44257019
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.606+4056T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257019 | ||||||
| chrX:44257142
|
C | T | 12 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0002g0038others(9): Show | 12 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.606+3933G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257142 | ||||||
| chrX:44257294
|
G | T | 7 | a0001c0001t0001g0085a0001c0001t0004g0105a0001c0001t0009g0007others(4): Show | 7 | HG02257.hp2 HG02630.hp1 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.606+3781C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257294 | ||||||
| chrX:44257773
|
GA | G | 1 | a0001c0001t0005g0219 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.606+3301delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257773 | ||||||
| chrX:44257783
|
A | G | 20 | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0211others(17): Show | 20 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(17): Show |
intron_variant | MODIFIER | c.606+3292T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257783 | ||||||
| chrX:44257817
|
G | A | 9 | a0003c0003t0002g0020a0003c0003t0002g0054a0003c0003t0002g0057others(6): Show | 9 | HG01081.hp1 HG01496.hp1 HG01928.hp1 others(6): Show |
intron_variant | MODIFIER | c.606+3258C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44257817 | ||||||
| chrX:44258044
|
T | C | 24 | a0001c0001t0001g0008a0001c0001t0001g0085a0001c0001t0001g0211others(21): Show | 24 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(21): Show |
intron_variant | MODIFIER | c.606+3031A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258044 | ||||||
| chrX:44258406
|
A | G | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.606+2669T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258406 | ||||||
| chrX:44258435
|
C | CA | 6 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(3): Show | 6 | HG01978.hp2 NA18967.hp1 NA18970.hp1 others(3): Show |
intron_variant | MODIFIER | c.606+2639dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258435 | ||||||
| chrX:44258435
|
CA | C | 4 | a0001c0001t0001g0024a0001c0001t0003g0016a0001c0001t0012g0032others(1): Show | 4 | HG00738.hp1 HG02647.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.606+2639delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258435 | ||||||
| chrX:44258656
|
A | G | 13 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(10): Show | 13 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.606+2419T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258656 | ||||||
| chrX:44258699
|
A | T | 2 | a0001c0001t0001g0012a0001c0001t0001g0099 | 2 | HG02055.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.606+2376T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258699 | ||||||
| chrX:44258714
|
G | A | 1 | a0001c0001t0003g0174 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.606+2361C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258714 | ||||||
| chrX:44258714
|
G | C | 58 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(55): Show | 58 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(55): Show |
intron_variant | MODIFIER | c.606+2361C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44258714 | ||||||
| chrX:44259116
|
T | C | 2 | a0002c0002t0004g0207a0002c0002t0004g0209 | 2 | HG02074.hp1 NA18994.hp1 |
intron_variant | MODIFIER | c.606+1959A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259116 | ||||||
| chrX:44259121
|
A | G | 14 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099others(11): Show | 14 | HG01169.hp1 HG02280.hp1 HG02615.hp1 others(11): Show |
intron_variant | MODIFIER | c.606+1954T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259121 | ||||||
| chrX:44259232
|
T | A | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.606+1843A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259232 | ||||||
| chrX:44259494
|
T | A | 44 | a0001c0001t0001g0012a0001c0001t0001g0194a0001c0001t0002g0081others(41): Show | 44 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(41): Show |
intron_variant | MODIFIER | c.606+1581A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259494 | ||||||
| chrX:44259688
|
G | C | 1 | a0001c0001t0004g0150 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.606+1387C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259688 | ||||||
| chrX:44259934
|
G | A | 2 | a0001c0001t0001g0145a0001c0001t0001g0146 | 2 | HG01069.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.606+1141C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44259934 | ||||||
| chrX:44260654
|
A | G | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.606+421T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | 44260654 | ||||||
| chrX:44261754
|
C | CA | 68 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0194others(65): Show | 68 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(65): Show |
intron_variant | MODIFIER | c.383-457dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261754 | ||||||
| chrX:44261754
|
C | CAA | 4 | a0002c0002t0004g0207a0003c0003t0002g0020a0003c0003t0002g0060others(1): Show | 4 | HG01496.hp1 HG02735.hp1 NA18974.hp1 others(1): Show |
intron_variant | MODIFIER | c.383-458_383-457dup others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261754 | ||||||
| chrX:44261754
|
CA | C | 13 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(10): Show | 13 | HG01169.hp2 HG02015.hp1 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.383-457delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261754 | ||||||
| chrX:44261780
|
T | G | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.383-482A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261780 | ||||||
| chrX:44261940
|
T | A | 1 | a0001c0001t0008g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.383-642A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44261940 | ||||||
| chrX:44262042
|
T | C | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.383-744A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262042 | ||||||
| chrX:44262057
|
G | C | 1 | a0001c0001t0008g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.383-759C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262057 | ||||||
| chrX:44262081
|
G | A | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.383-783C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262081 | ||||||
| chrX:44262352
|
T | TA | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.383-1055dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262352 | ||||||
| chrX:44262512
|
C | CA | 44 | a0001c0001t0001g0065a0001c0001t0001g0068a0001c0001t0001g0069others(41): Show | 44 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(41): Show |
intron_variant | MODIFIER | c.383-1215dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262512 | ||||||
| chrX:44262512
|
C | CAA | 2 | a0001c0001t0001g0130a0001c0001t0004g0156 | 2 | HG02523.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.383-1216_383-1215d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262512 | ||||||
| chrX:44262512
|
CA | C | 7 | a0001c0001t0001g0125a0001c0001t0002g0081a0001c0001t0002g0107others(4): Show | 7 | HG01169.hp1 HG01981.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.383-1215delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262512 | ||||||
| chrX:44262512
|
CAA | C | 1 | a0001c0001t0018g0019 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.383-1216_383-1215d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262512 | ||||||
| chrX:44262526
|
A | AAAGAAAG | 1 | a0006c0007t0002g0203 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.383-1229_383-1228i others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262526 | ||||||
| chrX:44262531
|
A | AAAAGAAA others(2): Show |
4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.383-1234_383-1233i others(11): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | ||||||
| chrX:44262531
|
A | AAAG | 1 | a0001c0001t0001g0076 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.383-1234_383-1233i others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | ||||||
| chrX:44262531
|
A | AAAGAAAA others(1): Show |
16 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(13): Show | 16 | HG01361.hp1 HG01934.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.383-1234_383-1233i others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | ||||||
| chrX:44262531
|
A | AAGAAAAG | 39 | a0001c0001t0001g0012a0001c0001t0001g0194a0001c0001t0006g0078others(36): Show | 39 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.383-1234_383-1233i others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | ||||||
| chrX:44262531
|
A | AGAAAAG | 3 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101 | 3 | HG02698.hp1 HG03492.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.383-1234_383-1233i others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | ||||||
| chrX:44262531
|
A | G | 1 | a0006c0007t0002g0203 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.383-1233T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44262531 | ||||||
| chrX:44263619
|
C | T | 1 | a0001c0001t0006g0078 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.383-2321G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44263619 | ||||||
| chrX:44263853
|
C | T | 1 | a0001c0001t0010g0135 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.383-2555G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44263853 | ||||||
| chrX:44264531
|
C | T | 70 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(67): Show | 70 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(67): Show |
intron_variant | MODIFIER | c.383-3233G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44264531 | ||||||
| chrX:44264653
|
A | G | 1 | a0001c0001t0001g0104 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.383-3355T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44264653 | ||||||
| chrX:44265020
|
CTCATCT | C | 59 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(56): Show | 59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.383-3728_383-3723d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265020 | ||||||
| chrX:44265091
|
A | T | 7 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0002g0081others(4): Show | 7 | HG01243.hp1 HG01255.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.383-3793T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265091 | ||||||
| chrX:44265268
|
T | A | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.383-3970A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265268 | ||||||
| chrX:44265883
|
A | G | 2 | a0001c0001t0009g0158a0001c0001t0009g0179 | 2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.383-4585T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265883 | ||||||
| chrX:44265985
|
T | C | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.383-4687A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44265985 | ||||||
| chrX:44266209
|
T | C | 2 | a0001c0001t0001g0075a0001c0001t0001g0087 | 2 | NA18986.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.383-4911A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266209 | ||||||
| chrX:44266355
|
A | T | 3 | a0001c0001t0002g0081a0001c0001t0002g0107a0001c0001t0003g0141 | 3 | HG02886.hp1 HG03225.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.383-5057T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266355 | ||||||
| chrX:44266524
|
G | A | 1 | a0001c0001t0003g0188 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.383-5226C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266524 | ||||||
| chrX:44266563
|
G | A | 3 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101 | 3 | HG02698.hp1 HG03492.hp1 HG03831.hp1 |
intron_variant | MODIFIER | c.383-5265C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44266563 | ||||||
| chrX:44267508
|
C | T | 1 | a0001c0001t0004g0156 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.382+5178G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44267508 | ||||||
| chrX:44267798
|
G | A | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382+4888C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44267798 | ||||||
| chrX:44267955
|
C | T | 59 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(56): Show | 59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.382+4731G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44267955 | ||||||
| chrX:44268938
|
C | T | 1 | a0001c0001t0003g0127 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.382+3748G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44268938 | ||||||
| chrX:44269237
|
G | A | 63 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(60): Show | 63 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.382+3449C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44269237 | ||||||
| chrX:44269402
|
C | T | 12 | a0003c0003t0002g0020a0003c0003t0002g0054a0003c0003t0002g0057others(9): Show | 12 | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.382+3284G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44269402 | ||||||
| chrX:44269950
|
C | A | 3 | a0001c0001t0001g0052a0001c0001t0001g0125a0001c0001t0001g0205 | 3 | NA18948.hp1 NA18965.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.382+2736G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44269950 | ||||||
| chrX:44270105
|
C | T | 1 | a0001c0001t0021g0131 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.382+2581G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270105 | ||||||
| chrX:44270379
|
A | C | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.382+2307T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270379 | ||||||
| chrX:44270413
|
A | T | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382+2273T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270413 | ||||||
| chrX:44270916
|
T | C | 3 | a0001c0006t0001g0029a0001c0006t0001g0030a0001c0006t0006g0106 | 3 | HG02280.hp2 HG02970.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.382+1770A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270916 | ||||||
| chrX:44270977
|
A | T | 59 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(56): Show | 59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.382+1709T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44270977 | ||||||
| chrX:44271769
|
C | T | 2 | a0001c0001t0006g0043a0001c0001t0010g0135 | 2 | HG02155.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.382+917G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44271769 | ||||||
| chrX:44272183
|
G | A | 59 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(56): Show | 59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.382+503C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272183 | ||||||
| chrX:44272374
|
G | A | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.382+312C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272374 | ||||||
| chrX:44272451
|
G | C | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.382+235C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272451 | ||||||
| chrX:44272547
|
G | A | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.382+139C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 3/14 | chrX | 44272547 | ||||||
| chrX:44272940
|
A | G | 6 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0002g0038others(3): Show | 6 | HG01169.hp1 HG01255.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-104T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44272940 | ||||||
| chrX:44273346
|
T | TA | 59 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(56): Show | 59 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(56): Show |
intron_variant | MODIFIER | c.232-511dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273346 | ||||||
| chrX:44273350
|
C | A | 9 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(6): Show | 9 | HG02004.hp2 HG02027.hp1 HG02135.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-514G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273350 | ||||||
| chrX:44273472
|
T | C | 1 | a0001c0001t0001g0152 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.232-636A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273472 | ||||||
| chrX:44273869
|
T | C | 1 | a0001c0001t0002g0082 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.232-1033A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273869 | ||||||
| chrX:44273939
|
T | G | 1 | a0001c0001t0001g0137 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.232-1103A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273939 | ||||||
| chrX:44273965
|
T | C | 1 | a0001c0001t0005g0213 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.232-1129A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273965 | ||||||
| chrX:44273975
|
T | C | 1 | a0001c0001t0001g0065 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.232-1139A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44273975 | ||||||
| chrX:44274098
|
T | C | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.232-1262A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274098 | ||||||
| chrX:44274548
|
A | C | 61 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(58): Show | 61 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.232-1712T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274548 | ||||||
| chrX:44274722
|
T | C | 1 | a0001c0001t0003g0051 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.232-1886A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274722 | ||||||
| chrX:44274725
|
C | CA | 1 | a0001c0001t0007g0124 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.232-1890dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274725 | ||||||
| chrX:44274767
|
T | G | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.232-1931A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274767 | ||||||
| chrX:44274870
|
T | A | 1 | a0001c0001t0001g0215 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.232-2034A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274870 | ||||||
| chrX:44274993
|
A | G | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.232-2157T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44274993 | ||||||
| chrX:44275005
|
A | AT | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.232-2170dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275005 | ||||||
| chrX:44275110
|
CACTGGCA others(14): Show |
C | 1 | a0001c0001t0001g0010 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.232-2295_232-2275d others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275110 | ||||||
| chrX:44275125
|
A | G | 4 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0006g0023others(1): Show | 4 | HG01243.hp1 HG01255.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.232-2289T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275125 | ||||||
| chrX:44275221
|
A | C | 2 | a0001c0001t0001g0177a0001c0001t0001g0185 | 2 | HG00280.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.232-2385T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275221 | ||||||
| chrX:44275235
|
G | A | 2 | a0002c0008t0004g0055a0002c0008t0004g0128 | 2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.232-2399C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275235 | ||||||
| chrX:44275434
|
G | A | 4 | a0001c0001t0001g0194a0001c0001t0009g0158a0001c0001t0009g0179others(1): Show | 4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-2598C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275434 | ||||||
| chrX:44275633
|
G | A | 1 | a0001c0001t0001g0074 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.232-2797C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275633 | ||||||
| chrX:44275669
|
T | A | 1 | a0002c0002t0004g0209 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.232-2833A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275669 | ||||||
| chrX:44275913
|
C | CA | 3 | a0001c0001t0001g0114a0001c0001t0004g0175a0001c0001t0005g0169 | 3 | HG02683.hp2 NA18977.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.232-3078dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275913 | ||||||
| chrX:44275913
|
CA | C | 1 | a0001c0001t0012g0033 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.232-3078delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44275913 | ||||||
| chrX:44276294
|
G | A | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.232-3458C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276294 | ||||||
| chrX:44276368
|
G | T | 2 | a0001c0001t0001g0085a0001c0001t0004g0105 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.232-3532C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276368 | ||||||
| chrX:44276375
|
G | A | 62 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(59): Show | 62 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.232-3539C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276375 | ||||||
| chrX:44276517
|
T | A | 1 | a0001c0001t0019g0067 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.232-3681A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44276517 | ||||||
| chrX:44277019
|
G | A | 48 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0002g0082others(45): Show | 48 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.232-4183C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277019 | ||||||
| chrX:44277035
|
G | A | 1 | a0001c0001t0001g0167 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.232-4199C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277035 | ||||||
| chrX:44277127
|
C | CG | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.232-4292dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277127 | ||||||
| chrX:44277153
|
G | A | 1 | a0001c0001t0001g0137 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.232-4317C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277153 | ||||||
| chrX:44277258
|
C | CA | 29 | a0001c0001t0001g0008a0001c0001t0001g0116a0001c0001t0001g0132others(26): Show | 29 | HG00673.hp1 HG01169.hp1 HG01243.hp1 others(26): Show |
intron_variant | MODIFIER | c.232-4423dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277258 | ||||||
| chrX:44277258
|
C | CAA | 1 | a0001c0001t0005g0192 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.232-4424_232-4423d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277258 | ||||||
| chrX:44277258
|
CA | C | 7 | a0001c0001t0001g0013a0001c0001t0003g0184a0001c0001t0003g0188others(4): Show | 7 | HG00738.hp1 HG01515.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.232-4423delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277258 | ||||||
| chrX:44277281
|
A | AAG | 2 | a0002c0002t0002g0077a0003c0003t0002g0057 | 2 | HG01934.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.232-4446_232-4445i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277281 | ||||||
| chrX:44277281
|
A | AG | 57 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(54): Show | 57 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(54): Show |
intron_variant | MODIFIER | c.232-4446_232-4445i others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277281 | ||||||
| chrX:44277281
|
A | G | 4 | a0001c0001t0009g0158a0001c0001t0009g0179a0001c0001t0009g0198others(1): Show | 4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-4445T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277281 | ||||||
| chrX:44277414
|
GA | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.232-4579delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44277414 | ||||||
| chrX:44278097
|
G | A | 1 | a0001c0001t0001g0076 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.232-5261C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278097 | ||||||
| chrX:44278220
|
CA | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.232-5385delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278220 | ||||||
| chrX:44278295
|
A | G | 1 | a0007c0009t0017g0176 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.232-5459T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278295 | ||||||
| chrX:44278366
|
A | T | 1 | a0001c0001t0005g0039 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.232-5530T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278366 | ||||||
| chrX:44278384
|
A | G | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-5548T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278384 | ||||||
| chrX:44278504
|
C | T | 2 | a0001c0001t0001g0116a0001c0001t0021g0131 | 2 | NA19070.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.232-5668G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278504 | ||||||
| chrX:44278582
|
C | T | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.232-5746G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278582 | ||||||
| chrX:44278640
|
C | T | 1 | a0001c0001t0018g0019 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.232-5804G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278640 | ||||||
| chrX:44278731
|
A | G | 80 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(77): Show | 80 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(77): Show |
intron_variant | MODIFIER | c.232-5895T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44278731 | ||||||
| chrX:44279027
|
C | A | 1 | a0001c0001t0001g0072 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.232-6191G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279027 | ||||||
| chrX:44279485
|
T | C | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-6649A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279485 | ||||||
| chrX:44279710
|
C | A | 66 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(63): Show | 66 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.232-6874G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279710 | ||||||
| chrX:44279874
|
T | C | 51 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(48): Show | 51 | HG00438.hp2 HG00673.hp1 HG01261.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-7038A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279874 | ||||||
| chrX:44279895
|
G | A | 1 | a0001c0001t0001g0068 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.232-7059C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279895 | ||||||
| chrX:44279996
|
C | T | 1 | a0001c0001t0003g0138 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.232-7160G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44279996 | ||||||
| chrX:44280030
|
T | TAC | 7 | a0001c0001t0001g0052a0001c0001t0001g0087a0001c0001t0001g0129others(4): Show | 7 | HG00438.hp2 HG01192.hp1 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-7196_232-7195d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACAC | 4 | a0001c0001t0004g0050a0001c0001t0009g0007a0001c0001t0009g0009others(1): Show | 4 | HG02257.hp2 HG02896.hp1 HG03710.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-7198_232-7195d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACACAC | 14 | a0001c0001t0001g0008a0001c0001t0001g0194a0001c0001t0001g0211others(11): Show | 14 | HG00741.hp2 HG01070.hp2 HG01169.hp1 others(11): Show |
intron_variant | MODIFIER | c.232-7200_232-7195d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACACACA others(1): Show |
6 | a0001c0001t0001g0200a0001c0001t0005g0091a0001c0001t0008g0199others(3): Show | 6 | HG01358.hp1 HG03098.hp1 HG03195.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-7202_232-7195d others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACACACA others(3): Show |
12 | a0001c0001t0001g0076a0001c0001t0001g0103a0001c0001t0005g0192others(9): Show | 12 | HG01361.hp1 HG01928.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.232-7204_232-7195d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACACACA others(5): Show |
28 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(25): Show | 28 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(25): Show |
intron_variant | MODIFIER | c.232-7206_232-7195d others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACACACA others(7): Show |
10 | a0001c0001t0001g0104a0001c0006t0001g0029a0001c0006t0006g0106others(7): Show | 10 | HG01496.hp1 HG01952.hp1 HG01978.hp1 others(7): Show |
intron_variant | MODIFIER | c.232-7208_232-7195d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACACACA others(9): Show |
4 | a0001c0006t0001g0018a0002c0002t0002g0077a0006c0007t0002g0025others(1): Show | 4 | HG01934.hp1 HG02451.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-7210_232-7195d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
T | TACACACA others(11): Show |
1 | a0006c0007t0002g0203 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.232-7212_232-7195d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
TACAC | T | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.232-7198_232-7195d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280030
|
TACACAC | T | 1 | a0001c0006t0001g0030 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.232-7200_232-7195d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280030 | ||||||
| chrX:44280132
|
A | T | 1 | a0001c0001t0001g0010 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.232-7296T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280132 | ||||||
| chrX:44280259
|
C | CA | 4 | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0004g0175others(1): Show | 4 | HG02055.hp1 HG02602.hp1 HG02683.hp2 others(1): Show |
intron_variant | MODIFIER | c.232-7424dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280259 | ||||||
| chrX:44280259
|
CA | C | 1 | a0001c0006t0001g0018 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.232-7424delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280259 | ||||||
| chrX:44280272
|
G | T | 36 | a0001c0001t0001g0013a0001c0001t0001g0065a0001c0001t0001g0068others(33): Show | 36 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(33): Show |
intron_variant | MODIFIER | c.232-7436C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280272 | ||||||
| chrX:44280440
|
A | G | 2 | a0003c0003t0002g0186a0003c0003t0002g0187 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.232-7604T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280440 | ||||||
| chrX:44280593
|
G | C | 1 | a0002c0002t0002g0164 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.232-7757C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280593 | ||||||
| chrX:44280740
|
C | CA | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.232-7905dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44280740 | ||||||
| chrX:44281014
|
G | A | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.232-8178C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281014 | ||||||
| chrX:44281041
|
TC | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.232-8206delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281041 | ||||||
| chrX:44281174
|
C | T | 2 | a0001c0001t0001g0123a0001c0001t0001g0168 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.232-8338G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281174 | ||||||
| chrX:44281199
|
C | T | 1 | a0003c0003t0002g0054 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.232-8363G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281199 | ||||||
| chrX:44281210
|
G | T | 1 | a0001c0001t0005g0169 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.232-8374C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281210 | ||||||
| chrX:44281468
|
CA | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.232-8633delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281468 | ||||||
| chrX:44281663
|
TTA | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.232-8829_232-8828d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281663 | ||||||
| chrX:44281707
|
TA | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.232-8872delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281707 | ||||||
| chrX:44281811
|
G | GA | 1 | a0002c0002t0007g0118 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.232-8976dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44281811 | ||||||
| chrX:44282146
|
T | C | 63 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(60): Show | 63 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.232-9310A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282146 | ||||||
| chrX:44282410
|
C | T | 3 | a0001c0001t0001g0200a0001c0001t0008g0199a0001c0001t0008g0202 | 3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.232-9574G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282410 | ||||||
| chrX:44282441
|
T | TA | 3 | a0001c0001t0001g0114a0001c0001t0002g0038a0001c0001t0004g0063 | 3 | HG03579.hp1 HG04199.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.232-9606dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282441 | ||||||
| chrX:44282441
|
TA | T | 3 | a0001c0001t0003g0188a0001c0001t0007g0115a0001c0001t0008g0035 | 3 | HG03195.hp2 HG03209.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.232-9606delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282441 | ||||||
| chrX:44282571
|
G | A | 2 | a0001c0001t0001g0093a0001c0001t0001g0214 | 2 | HG02129.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.232-9735C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282571 | ||||||
| chrX:44282620
|
C | CG | 23 | a0001c0001t0001g0052a0001c0001t0001g0072a0001c0001t0001g0075others(20): Show | 23 | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(20): Show |
intron_variant | MODIFIER | c.232-9785dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282620
|
C | CGG | 18 | a0001c0001t0001g0010a0001c0001t0001g0053a0001c0001t0001g0068others(15): Show | 18 | HG00140.hp1 HG00621.hp1 HG01069.hp1 others(15): Show |
intron_variant | MODIFIER | c.232-9786_232-9785d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282620
|
C | CGGG | 8 | a0001c0001t0001g0205a0001c0001t0001g0214a0001c0001t0003g0138others(5): Show | 8 | HG00673.hp1 HG02129.hp1 HG04199.hp1 others(5): Show |
intron_variant | MODIFIER | c.232-9787_232-9785d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282620
|
C | CGGGG | 1 | a0001c0001t0003g0188 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.232-9788_232-9785d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282620
|
C | CGGGGG | 2 | a0001c0001t0001g0040a0001c0001t0001g0152 | 2 | HG01192.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.232-9789_232-9785d others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282620
|
C | CGGGGGG | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.232-9790_232-9785d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282620
|
C | G | 1 | a0010c0012t0001g0071 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.232-9784G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282620
|
CG | C | 5 | a0001c0001t0001g0086a0001c0001t0001g0130a0001c0001t0003g0208others(2): Show | 5 | HG02523.hp1 NA18961.hp1 NA18969.hp2 others(2): Show |
intron_variant | MODIFIER | c.232-9785delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282620 | ||||||
| chrX:44282624
|
G | T | 41 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(38): Show | 41 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(38): Show |
intron_variant | MODIFIER | c.232-9788C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282624 | ||||||
| chrX:44282625
|
G | C | 1 | a0002c0002t0007g0118 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.232-9789C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282625 | ||||||
| chrX:44282626
|
G | GT | 2 | a0001c0001t0001g0132a0001c0001t0005g0121 | 2 | HG02027.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.232-9791_232-9790i others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282626 | ||||||
| chrX:44282627
|
G | GT | 7 | a0001c0001t0001g0006a0001c0001t0001g0024a0001c0001t0001g0103others(4): Show | 7 | HG02451.hp2 HG02615.hp2 HG02647.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-9792_232-9791i others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | ||||||
| chrX:44282627
|
G | T | 7 | a0001c0001t0001g0065a0001c0001t0005g0004a0001c0001t0005g0083others(4): Show | 7 | HG00438.hp2 HG04228.hp1 NA18940.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-9791C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | ||||||
| chrX:44282627
|
GGGGGGGG others(3): Show |
G | 1 | a0001c0001t0005g0091 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.232-9801_232-9792d others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | ||||||
| chrX:44282627
|
GGGGGGGG others(13): Show |
G | 6 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(3): Show | 6 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-9811_232-9792d others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282627 | ||||||
| chrX:44282628
|
G | T | 6 | a0001c0001t0001g0017a0001c0001t0001g0076a0001c0001t0003g0208others(3): Show | 6 | HG02258.hp1 HG02280.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.232-9792C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282628 | ||||||
| chrX:44282628
|
GGGGGGGG others(12): Show |
G | 4 | a0001c0001t0008g0202a0006c0007t0002g0025a0006c0007t0002g0026others(1): Show | 4 | HG02572.hp1 HG02818.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-9811_232-9793d others(21): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282628 | ||||||
| chrX:44282629
|
G | GGGT | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.232-9794_232-9793i others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282629 | ||||||
| chrX:44282629
|
GGGGGGGG others(11): Show |
G | 2 | a0002c0002t0007g0118a0002c0002t0007g0216 | 2 | HG02165.hp2 NA18939.hp2 |
intron_variant | MODIFIER | c.232-9811_232-9794d others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282629 | ||||||
| chrX:44282630
|
G | GGGT | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.232-9795_232-9794i others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282630 | ||||||
| chrX:44282630
|
G | GGT | 1 | a0001c0001t0009g0009 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.232-9795_232-9794i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282630 | ||||||
| chrX:44282630
|
GGGGGGGT others(10): Show |
G | 6 | a0001c0001t0002g0082a0001c0001t0006g0078a0002c0002t0002g0014others(3): Show | 6 | HG00438.hp1 HG01074.hp1 HG01256.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-9811_232-9795d others(19): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282630 | ||||||
| chrX:44282631
|
GGGGGGTG others(9): Show |
G | 15 | a0001c0001t0002g0096a0001c0001t0002g0101a0002c0002t0002g0062others(12): Show | 15 | HG01109.hp1 HG01358.hp1 HG01952.hp1 others(12): Show |
intron_variant | MODIFIER | c.232-9811_232-9796d others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282631 | ||||||
| chrX:44282632
|
GGGGGTGG others(8): Show |
G | 15 | a0002c0002t0002g0079a0002c0002t0002g0190a0002c0008t0004g0055others(12): Show | 15 | HG01081.hp1 HG01361.hp1 HG01928.hp1 others(12): Show |
intron_variant | MODIFIER | c.232-9811_232-9797d others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282632 | ||||||
| chrX:44282633
|
G | GGGGGT | 1 | a0001c0001t0003g0154 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.232-9798_232-9797i others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282633 | ||||||
| chrX:44282633
|
GGGGTGGG others(7): Show |
G | 6 | a0001c0001t0005g0192a0001c0001t0005g0212a0002c0002t0002g0077others(3): Show | 6 | HG01070.hp1 HG01071.hp2 HG01496.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-9811_232-9798d others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282633 | ||||||
| chrX:44282635
|
G | GGGGGGT | 1 | a0001c0001t0003g0119 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.232-9800_232-9799i others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282635 | ||||||
| chrX:44282635
|
G | GGGGGT | 1 | a0001c0001t0004g0066 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.232-9800_232-9799i others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282635 | ||||||
| chrX:44282635
|
G | GGGT | 1 | a0001c0001t0004g0092 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.232-9800_232-9799i others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282635 | ||||||
| chrX:44282635
|
G | T | 1 | a0001c0001t0005g0121 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.232-9799C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282635 | ||||||
| chrX:44282636
|
G | GC | 1 | a0001c0001t0004g0156 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.232-9801_232-9800i others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
G | GGGGGT | 3 | a0001c0001t0001g0045a0001c0001t0003g0122a0008c0010t0006g0163 | 3 | HG03017.hp1 NA18952.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.232-9801_232-9800i others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
G | GGGGT | 2 | a0001c0001t0003g0127a0001c0001t0010g0135 | 2 | HG02155.hp2 NA18981.hp1 |
intron_variant | MODIFIER | c.232-9801_232-9800i others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
G | GGGT | 12 | a0001c0001t0001g0114a0001c0001t0001g0125a0001c0001t0001g0129others(9): Show | 12 | HG01106.hp1 HG02040.hp1 HG02132.hp1 others(9): Show |
intron_variant | MODIFIER | c.232-9801_232-9800i others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
G | GGT | 17 | a0001c0001t0001g0085a0001c0001t0001g0116a0001c0001t0001g0145others(14): Show | 17 | HG01071.hp1 HG01099.hp1 HG01168.hp2 others(14): Show |
intron_variant | MODIFIER | c.232-9801_232-9800i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
G | GT | 1 | a0001c0001t0002g0064 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.232-9801dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
G | T | 9 | a0001c0001t0001g0008a0001c0001t0001g0123a0001c0001t0001g0168others(6): Show | 9 | HG00438.hp2 HG00741.hp1 HG01168.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-9800C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
GT | G | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.232-9801delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282636
|
GTGGGGGG others(4): Show |
G | 1 | a0001c0001t0001g0012 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.232-9811_232-9801d others(13): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282636 | ||||||
| chrX:44282637
|
T | G | 53 | a0001c0001t0001g0008a0001c0001t0001g0045a0001c0001t0001g0085others(50): Show | 53 | HG00438.hp2 HG00738.hp1 HG00741.hp1 others(50): Show |
intron_variant | MODIFIER | c.232-9801A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | ||||||
| chrX:44282637
|
T | TG | 20 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0069others(17): Show | 20 | HG01496.hp2 HG02027.hp1 HG02071.hp1 others(17): Show |
intron_variant | MODIFIER | c.232-9802dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | ||||||
| chrX:44282637
|
T | TGG | 1 | a0001c0001t0004g0139 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.232-9803_232-9802d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | ||||||
| chrX:44282637
|
T | TGGG | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.232-9804_232-9802d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | ||||||
| chrX:44282637
|
T | TTG | 2 | a0001c0001t0002g0097a0001c0001t0002g0098 | 2 | HG00642.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.232-9802_232-9801i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282637 | ||||||
| chrX:44282638
|
G | GGGGT | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.232-9803_232-9802i others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282638 | ||||||
| chrX:44282638
|
G | GGT | 1 | a0004c0004t0001g0021 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.232-9803_232-9802i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282638 | ||||||
| chrX:44282638
|
G | T | 1 | a0001c0001t0001g0148 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.232-9802C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282638 | ||||||
| chrX:44282639
|
G | T | 1 | a0001c0001t0003g0174 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.232-9803C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282639 | ||||||
| chrX:44282642
|
GGGGGT | G | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.232-9811_232-9807d others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282642 | ||||||
| chrX:44282646
|
G | GGGT | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.232-9811_232-9810i others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282646 | ||||||
| chrX:44282646
|
G | GGT | 6 | a0001c0001t0001g0160a0001c0001t0003g0171a0001c0001t0004g0161others(3): Show | 6 | HG00621.hp1 HG00673.hp1 HG01978.hp2 others(3): Show |
intron_variant | MODIFIER | c.232-9811_232-9810i others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282646 | ||||||
| chrX:44282647
|
T | G | 13 | a0001c0001t0001g0148a0001c0001t0001g0160a0001c0001t0003g0171others(10): Show | 13 | HG00621.hp1 HG00673.hp1 HG01978.hp2 others(10): Show |
intron_variant | MODIFIER | c.232-9811A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282647 | ||||||
| chrX:44282647
|
T | TG | 7 | a0001c0001t0001g0053a0001c0001t0001g0068a0001c0001t0001g0153others(4): Show | 7 | HG01169.hp2 HG02004.hp2 HG03654.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-9812dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282647 | ||||||
| chrX:44282647
|
TG | T | 2 | a0001c0001t0003g0218a0001c0001t0005g0178 | 2 | NA18939.hp1 NA18969.hp1 |
intron_variant | MODIFIER | c.232-9812delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282647 | ||||||
| chrX:44282647
|
TGGGG | T | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.232-9815_232-9812d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282647 | ||||||
| chrX:44282649
|
G | T | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.232-9813C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282649 | ||||||
| chrX:44282652
|
G | C | 1 | a0001c0001t0002g0082 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.232-9816C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282652 | ||||||
| chrX:44282682
|
A | T | 1 | a0001c0001t0001g0086 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.232-9846T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282682 | ||||||
| chrX:44282692
|
A | C | 5 | a0001c0001t0006g0078a0004c0004t0002g0022a0004c0004t0002g0027others(2): Show | 5 | HG01361.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.232-9856T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282692 | ||||||
| chrX:44282735
|
A | G | 1 | a0001c0001t0001g0069 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.232-9899T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282735 | ||||||
| chrX:44282740
|
GT | G | 1 | a0002c0002t0007g0118 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.232-9905delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282740 | ||||||
| chrX:44282914
|
G | T | 1 | a0001c0001t0005g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.232-10078C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282914 | ||||||
| chrX:44282989
|
G | C | 3 | a0001c0001t0009g0007a0001c0001t0009g0009a0001c0001t0024g0221 | 3 | HG02257.hp2 HG02896.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.232-10153C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44282989 | ||||||
| chrX:44283220
|
TC | T | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.232-10385delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283220 | ||||||
| chrX:44283223
|
C | G | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.232-10387G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283223 | ||||||
| chrX:44283310
|
G | C | 1 | a0001c0001t0005g0039 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.232-10474C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283310 | ||||||
| chrX:44283404
|
T | G | 2 | a0001c0001t0001g0085a0001c0001t0004g0105 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.232-10568A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283404 | ||||||
| chrX:44283477
|
C | T | 4 | a0001c0001t0001g0211a0001c0001t0002g0038a0001c0001t0003g0037others(1): Show | 4 | HG01169.hp1 HG02615.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-10641G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283477 | ||||||
| chrX:44283484
|
T | TCGGAAGC others(12): Show |
1 | a0001c0001t0001g0052 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.232-10667_232-1064 others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283484 | ||||||
| chrX:44283532
|
C | CT | 24 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(21): Show | 24 | HG01106.hp1 HG01361.hp2 HG01515.hp1 others(21): Show |
intron_variant | MODIFIER | c.232-10697dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283532
|
C | CTT | 4 | a0001c0001t0002g0197a0001c0001t0011g0011a0007c0009t0003g0117others(1): Show | 4 | HG00621.hp1 NA19030.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.232-10698_232-1069 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283532
|
C | CTTT | 2 | a0001c0001t0009g0007a0001c0001t0009g0009 | 2 | HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.232-10699_232-1069 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283532
|
C | CTTTT | 10 | a0001c0001t0001g0012a0001c0001t0001g0200a0001c0001t0008g0199others(7): Show | 10 | HG01256.hp1 HG01361.hp1 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.232-10700_232-1069 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283532
|
C | CTTTTT | 39 | a0001c0001t0001g0008a0001c0001t0001g0194a0001c0001t0001g0211others(36): Show | 39 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(36): Show |
intron_variant | MODIFIER | c.232-10701_232-1069 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283532
|
C | CTTTTTT | 16 | a0001c0001t0002g0096a0001c0001t0005g0091a0001c0001t0005g0192others(13): Show | 16 | HG01074.hp1 HG01109.hp1 HG01934.hp1 others(13): Show |
intron_variant | MODIFIER | c.232-10702_232-1069 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283532
|
C | CTTTTTTT | 2 | a0002c0002t0002g0164a0013c0014t0023g0191 | 2 | HG01358.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.232-10703_232-1069 others(11): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283532
|
CTTT | C | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-10699_232-1069 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283532 | ||||||
| chrX:44283675
|
C | CT | 45 | a0001c0001t0001g0013a0001c0001t0001g0040a0001c0001t0001g0065others(42): Show | 45 | HG00438.hp1 HG01071.hp2 HG01074.hp1 others(42): Show |
intron_variant | MODIFIER | c.232-10840dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | ||||||
| chrX:44283675
|
C | CTT | 14 | a0001c0001t0001g0012a0001c0001t0001g0194a0001c0001t0001g0200others(11): Show | 14 | HG00741.hp2 HG01070.hp2 HG01358.hp1 others(11): Show |
intron_variant | MODIFIER | c.232-10841_232-1084 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | ||||||
| chrX:44283675
|
C | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-10839G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | ||||||
| chrX:44283675
|
CT | C | 7 | a0001c0001t0001g0116a0001c0001t0002g0197a0001c0001t0003g0165others(4): Show | 7 | HG00741.hp1 HG01515.hp1 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.232-10840delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | ||||||
| chrX:44283675
|
CTTT | C | 9 | a0001c0001t0001g0008a0001c0001t0001g0211a0001c0001t0002g0038others(6): Show | 9 | HG01169.hp1 HG01243.hp1 HG01255.hp1 others(6): Show |
intron_variant | MODIFIER | c.232-10842_232-1084 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283675 | ||||||
| chrX:44283752
|
C | T | 1 | a0006c0007t0002g0025 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.232-10916G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44283752 | ||||||
| chrX:44284173
|
C | T | 3 | a0001c0001t0001g0200a0001c0001t0008g0199a0001c0001t0008g0202 | 3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.232-11337G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284173 | ||||||
| chrX:44284611
|
A | G | 3 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080 | 3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.232-11775T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284611 | ||||||
| chrX:44284697
|
C | A | 15 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(12): Show | 15 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(12): Show |
intron_variant | MODIFIER | c.232-11861G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284697 | ||||||
| chrX:44284739
|
AT | A | 1 | a0001c0001t0005g0083 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.232-11904delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284739 | ||||||
| chrX:44284869
|
A | G | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-12033T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284869 | ||||||
| chrX:44284874
|
A | G | 67 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(64): Show | 67 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.232-12038T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284874 | ||||||
| chrX:44284959
|
G | A | 1 | a0001c0001t0001g0053 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.232-12123C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44284959 | ||||||
| chrX:44285096
|
A | G | 1 | a0001c0001t0001g0012 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.232-12260T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285096 | ||||||
| chrX:44285154
|
C | CA | 1 | a0001c0001t0005g0083 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.232-12319dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285154 | ||||||
| chrX:44285240
|
T | C | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-12404A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285240 | ||||||
| chrX:44285288
|
G | A | 1 | a0001c0001t0001g0024 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.232-12452C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285288 | ||||||
| chrX:44285340
|
G | A | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.232-12504C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285340 | ||||||
| chrX:44285632
|
T | TG | 1 | a0001c0001t0004g0108 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.232-12797dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44285632 | ||||||
| chrX:44286559
|
AAG | A | 1 | a0001c0001t0008g0202 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.232-13725_232-1372 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44286559 | ||||||
| chrX:44286565
|
T | G | 1 | a0001c0001t0003g0147 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.232-13729A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44286565 | ||||||
| chrX:44286641
|
TA | T | 1 | a0002c0002t0002g0190 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.232-13806delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44286641 | ||||||
| chrX:44286986
|
A | G | 1 | a0001c0006t0001g0018 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.232-14150T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44286986 | ||||||
| chrX:44287026
|
T | TA | 42 | a0001c0001t0001g0034a0001c0001t0001g0065a0001c0001t0001g0075others(39): Show | 42 | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(39): Show |
intron_variant | MODIFIER | c.232-14191dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | ||||||
| chrX:44287026
|
T | TAA | 26 | a0001c0001t0001g0012a0001c0001t0001g0085a0001c0001t0001g0194others(23): Show | 26 | HG01070.hp2 HG01074.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.232-14192_232-1419 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | ||||||
| chrX:44287026
|
T | TAAA | 11 | a0001c0001t0002g0101a0001c0001t0009g0179a0002c0002t0002g0077others(8): Show | 11 | HG00741.hp2 HG01081.hp1 HG01496.hp1 others(8): Show |
intron_variant | MODIFIER | c.232-14193_232-1419 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | ||||||
| chrX:44287026
|
T | TAAAA | 1 | a0002c0002t0002g0164 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.232-14194_232-1419 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | ||||||
| chrX:44287026
|
TA | T | 20 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0024others(17): Show | 20 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(17): Show |
intron_variant | MODIFIER | c.232-14191delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287026 | ||||||
| chrX:44287039
|
A | AG | 6 | a0001c0001t0004g0066a0001c0001t0004g0094a0001c0001t0004g0134others(3): Show | 6 | HG01261.hp1 HG01361.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.232-14204_232-1420 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287039 | ||||||
| chrX:44287065
|
G | A | 67 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(64): Show | 67 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.232-14229C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287065 | ||||||
| chrX:44287197
|
A | T | 2 | a0002c0008t0004g0055a0002c0008t0004g0128 | 2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.232-14361T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287197 | ||||||
| chrX:44287270
|
C | CA | 1 | a0001c0001t0008g0199 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.232-14435dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287270 | ||||||
| chrX:44287278
|
A | AT | 1 | a0002c0002t0002g0077 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.232-14443dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287278 | ||||||
| chrX:44287869
|
T | C | 4 | a0001c0001t0005g0091a0001c0001t0005g0192a0001c0001t0005g0212others(1): Show | 4 | NA18970.hp1 NA18981.hp2 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.232-15033A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44287869 | ||||||
| chrX:44288349
|
C | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-15513G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44288349 | ||||||
| chrX:44288466
|
C | T | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.232-15630G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44288466 | ||||||
| chrX:44288561
|
A | G | 1 | a0001c0001t0001g0072 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.232-15725T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44288561 | ||||||
| chrX:44289002
|
A | G | 51 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0002g0082others(48): Show | 51 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-16166T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289002 | ||||||
| chrX:44289056
|
A | G | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.232-16220T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289056 | ||||||
| chrX:44289121
|
TG | T | 1 | a0001c0001t0005g0121 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.232-16286delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289121 | ||||||
| chrX:44289478
|
C | T | 51 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0002g0082others(48): Show | 51 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-16642G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289478 | ||||||
| chrX:44289578
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.232-16742A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289578 | ||||||
| chrX:44289673
|
CTTTCT | C | 7 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.232-16842_232-1683 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289673 | ||||||
| chrX:44289677
|
C | CT | 34 | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0068others(31): Show | 34 | HG00673.hp1 HG01106.hp1 HG01261.hp1 others(31): Show |
intron_variant | MODIFIER | c.232-16842dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | ||||||
| chrX:44289677
|
C | CTT | 5 | a0001c0001t0003g0154a0001c0001t0004g0050a0001c0001t0004g0108others(2): Show | 5 | HG01496.hp2 HG02083.hp1 HG03710.hp1 others(2): Show |
intron_variant | MODIFIER | c.232-16843_232-1684 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | ||||||
| chrX:44289677
|
CT | C | 38 | a0001c0001t0001g0008a0001c0001t0001g0103a0001c0001t0001g0146others(35): Show | 38 | HG01069.hp1 HG01070.hp1 HG01074.hp1 others(35): Show |
intron_variant | MODIFIER | c.232-16842delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | ||||||
| chrX:44289677
|
CTT | C | 6 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(3): Show | 6 | HG02258.hp1 HG02647.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.232-16843_232-1684 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44289677 | ||||||
| chrX:44290159
|
T | TC | 1 | a0001c0001t0005g0121 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.232-17324dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290159 | ||||||
| chrX:44290325
|
A | G | 1 | a0003c0003t0002g0057 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.232-17489T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290325 | ||||||
| chrX:44290403
|
C | T | 62 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(59): Show | 62 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(59): Show |
intron_variant | MODIFIER | c.232-17567G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290403 | ||||||
| chrX:44290404
|
T | G | 2 | a0001c0001t0001g0123a0001c0001t0001g0168 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.232-17568A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290404 | ||||||
| chrX:44290410
|
T | C | 51 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0002g0082others(48): Show | 51 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.232-17574A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290410 | ||||||
| chrX:44290490
|
A | G | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.232-17654T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290490 | ||||||
| chrX:44290598
|
C | T | 3 | a0001c0001t0001g0012a0001c0001t0008g0031a0001c0001t0008g0041 | 3 | HG02055.hp1 HG02717.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.232-17762G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290598 | ||||||
| chrX:44290659
|
G | A | 66 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(63): Show | 66 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(63): Show |
intron_variant | MODIFIER | c.232-17823C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290659 | ||||||
| chrX:44290870
|
T | C | 67 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(64): Show | 67 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(64): Show |
intron_variant | MODIFIER | c.232-18034A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44290870 | ||||||
| chrX:44291014
|
A | G | 1 | a0001c0001t0004g0175 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.232-18178T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44291014 | ||||||
| chrX:44291507
|
G | A | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.232-18671C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44291507 | ||||||
| chrX:44291905
|
C | T | 1 | a0004c0004t0001g0021 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.232-19069G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44291905 | ||||||
| chrX:44292138
|
G | GT | 1 | a0004c0004t0001g0021 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.232-19303dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292138 | ||||||
| chrX:44292209
|
T | TAC | 10 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(7): Show | 10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.232-19375_232-1937 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292209 | ||||||
| chrX:44292381
|
A | G | 1 | a0001c0001t0004g0105 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.232-19545T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292381 | ||||||
| chrX:44292406
|
T | A | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.232-19570A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292406 | ||||||
| chrX:44292431
|
AT | A | 1 | a0001c0001t0005g0083 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.232-19596delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292431 | ||||||
| chrX:44292469
|
A | G | 3 | a0001c0001t0001g0052a0001c0001t0001g0125a0001c0001t0001g0205 | 3 | NA18948.hp1 NA18965.hp1 NA18971.hp1 |
intron_variant | MODIFIER | c.232-19633T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292469 | ||||||
| chrX:44292593
|
C | T | 52 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(49): Show | 52 | HG00438.hp1 HG01070.hp1 HG01071.hp2 others(49): Show |
intron_variant | MODIFIER | c.232-19757G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292593 | ||||||
| chrX:44292822
|
C | T | 2 | a0001c0001t0001g0151a0001c0001t0001g0152 | 2 | HG00140.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.231+19746G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292822 | ||||||
| chrX:44292975
|
C | CT | 4 | a0001c0001t0001g0095a0001c0001t0001g0160a0001c0001t0006g0043others(1): Show | 4 | HG02135.hp1 HG02486.hp1 NA18962.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+19592dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292975 | ||||||
| chrX:44292975
|
CT | C | 1 | a0001c0001t0008g0035 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.231+19592delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292975 | ||||||
| chrX:44292975
|
CTT | C | 61 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(58): Show | 61 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(58): Show |
intron_variant | MODIFIER | c.231+19591_231+1959 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292975 | ||||||
| chrX:44292975
|
CTTT | C | 1 | a0004c0004t0004g0133 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.231+19590_231+1959 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44292975 | ||||||
| chrX:44293009
|
C | G | 2 | a0001c0001t0002g0097a0001c0001t0002g0098 | 2 | HG00642.hp1 HG01081.hp2 |
intron_variant | MODIFIER | c.231+19559G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293009 | ||||||
| chrX:44293316
|
T | C | 7 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(4): Show | 7 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+19252A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293316 | ||||||
| chrX:44293410
|
C | CT | 1 | a0001c0001t0001g0040 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.231+19157dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293410 | ||||||
| chrX:44293535
|
ATTTCT | A | 10 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(7): Show | 10 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.231+19028_231+1903 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293535 | ||||||
| chrX:44293623
|
G | A | 1 | a0001c0001t0001g0024 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.231+18945C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293623 | ||||||
| chrX:44293948
|
C | T | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+18620G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293948 | ||||||
| chrX:44293995
|
CAT | C | 1 | a0005c0005t0001g0143 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.231+18571_231+1857 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44293995 | ||||||
| chrX:44294117
|
CTTGGGAT others(5): Show |
C | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+18439_231+1845 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294117 | ||||||
| chrX:44294249
|
C | CGT | 28 | a0001c0001t0001g0040a0001c0001t0001g0085a0001c0001t0001g0089others(25): Show | 28 | HG00140.hp1 HG00558.hp1 HG00558.hp2 others(25): Show |
intron_variant | MODIFIER | c.231+18317_231+1831 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
C | CGTGT | 13 | a0001c0001t0001g0010a0001c0001t0001g0072a0001c0001t0001g0086others(10): Show | 13 | HG01168.hp1 HG01169.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.231+18315_231+1831 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
C | CGTGTGT | 2 | a0001c0001t0022g0042a0005c0005t0001g0143 | 2 | NA19004.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.231+18313_231+1831 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGT | C | 37 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0053others(34): Show | 37 | HG00438.hp2 HG01081.hp2 HG01106.hp1 others(34): Show |
intron_variant | MODIFIER | c.231+18317_231+1831 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGT | C | 7 | a0001c0001t0001g0070a0001c0001t0001g0074a0001c0001t0001g0177others(4): Show | 7 | HG00280.hp1 HG00738.hp1 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+18315_231+1831 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGT | C | 11 | a0001c0001t0001g0087a0001c0001t0002g0081a0001c0001t0002g0107others(8): Show | 11 | HG00741.hp2 HG01070.hp2 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.231+18313_231+1831 others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGTG others(1): Show |
C | 7 | a0001c0001t0001g0211a0001c0001t0002g0038a0001c0001t0003g0165others(4): Show | 7 | HG00741.hp1 HG02572.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+18311_231+1831 others(12): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGTG others(3): Show |
C | 7 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0045others(4): Show | 7 | HG02717.hp1 HG02976.hp1 HG03017.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+18309_231+1831 others(14): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGTG others(5): Show |
C | 14 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(11): Show | 14 | HG02055.hp1 HG02258.hp1 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.231+18307_231+1831 others(16): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGTG others(7): Show |
C | 1 | a0002c0002t0007g0118 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.231+18305_231+1831 others(18): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGTG others(9): Show |
C | 49 | a0001c0001t0001g0103a0001c0001t0002g0082a0001c0001t0002g0096others(46): Show | 49 | HG00438.hp1 HG00673.hp1 HG01070.hp1 others(46): Show |
intron_variant | MODIFIER | c.231+18303_231+1831 others(20): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGTG others(11): Show |
C | 1 | a0003c0003t0002g0061 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.231+18301_231+1831 others(22): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294249
|
CGTGTGTG others(13): Show |
C | 2 | a0001c0001t0003g0208a0001c0001t0005g0149 | 2 | NA18969.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.231+18299_231+1831 others(24): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294249 | ||||||
| chrX:44294250
|
GTGT | G | 1 | a0001c0001t0001g0185 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.231+18315_231+1831 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294250 | ||||||
| chrX:44294429
|
TCTC | T | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.231+18136_231+1813 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294429 | ||||||
| chrX:44294833
|
G | C | 17 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099others(14): Show | 17 | HG01169.hp1 HG01243.hp1 HG02615.hp1 others(14): Show |
intron_variant | MODIFIER | c.231+17735C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44294833 | ||||||
| chrX:44295324
|
C | T | 1 | a0001c0001t0003g0141 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.231+17244G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295324 | ||||||
| chrX:44295359
|
G | A | 1 | a0001c0001t0003g0147 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.231+17209C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295359 | ||||||
| chrX:44295569
|
T | C | 10 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(7): Show | 10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.231+16999A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295569 | ||||||
| chrX:44295625
|
G | A | 1 | a0001c0001t0003g0208 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.231+16943C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295625 | ||||||
| chrX:44295696
|
AG | A | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+16871delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295696 | ||||||
| chrX:44295989
|
TC | T | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.231+16578delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44295989 | ||||||
| chrX:44296002
|
C | G | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.231+16566G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296002 | ||||||
| chrX:44296012
|
CT | C | 2 | a0001c0001t0009g0007a0012c0016t0003g0182 | 2 | HG02896.hp1 NA19067.hp1 |
intron_variant | MODIFIER | c.231+16555delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296012 | ||||||
| chrX:44296231
|
TG | T | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+16336delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296231 | ||||||
| chrX:44296324
|
C | A | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+16244G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296324 | ||||||
| chrX:44296324
|
C | T | 63 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(60): Show | 63 | HG00438.hp1 HG00741.hp2 HG01070.hp1 others(60): Show |
intron_variant | MODIFIER | c.231+16244G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296324 | ||||||
| chrX:44296326
|
GA | G | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+16241delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296326 | ||||||
| chrX:44296486
|
C | CA | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.231+16081dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296486 | ||||||
| chrX:44296493
|
A | AG | 7 | a0001c0001t0001g0010a0001c0001t0001g0159a0001c0001t0004g0142others(4): Show | 7 | HG01106.hp1 HG01496.hp2 HG01934.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+16074dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296493 | ||||||
| chrX:44296856
|
T | C | 1 | a0001c0001t0001g0148 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.231+15712A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44296856 | ||||||
| chrX:44297196
|
A | G | 4 | a0001c0001t0001g0008a0001c0001t0009g0007a0001c0001t0009g0009others(1): Show | 4 | HG01255.hp1 HG02257.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+15372T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297196 | ||||||
| chrX:44297225
|
AC | A | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+15342delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297225 | ||||||
| chrX:44297230
|
A | C | 1 | a0001c0001t0004g0134 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.231+15338T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297230 | ||||||
| chrX:44297688
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0009g0007a0001c0001t0009g0009 | 3 | HG01255.hp1 HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.231+14880G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297688 | ||||||
| chrX:44297721
|
TC | T | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.231+14846delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297721 | ||||||
| chrX:44297728
|
C | CA | 17 | a0001c0001t0001g0040a0001c0001t0001g0085a0001c0001t0001g0095others(14): Show | 17 | HG01261.hp1 HG02027.hp1 HG02135.hp1 others(14): Show |
intron_variant | MODIFIER | c.231+14839dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297728 | ||||||
| chrX:44297728
|
CA | C | 55 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(52): Show | 55 | HG00438.hp1 HG00558.hp2 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.231+14839delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297728 | ||||||
| chrX:44297728
|
CAA | C | 1 | a0010c0012t0001g0071 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.231+14838_231+1483 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297728 | ||||||
| chrX:44297759
|
A | T | 13 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0005g0091others(10): Show | 13 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(10): Show |
intron_variant | MODIFIER | c.231+14809T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297759 | ||||||
| chrX:44297911
|
G | A | 9 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(6): Show | 9 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.231+14657C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297911 | ||||||
| chrX:44297937
|
GAGAAA | G | 1 | a0001c0001t0008g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.231+14626_231+1463 others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297937 | ||||||
| chrX:44297986
|
T | TA | 3 | a0001c0001t0005g0091a0001c0001t0005g0212a0010c0012t0001g0071 | 3 | NA18970.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.231+14581dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297986 | ||||||
| chrX:44297987
|
A | T | 2 | a0001c0001t0002g0081a0001c0001t0002g0107 | 2 | HG02886.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.231+14581T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44297987 | ||||||
| chrX:44298011
|
AG | A | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+14556delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298011 | ||||||
| chrX:44298445
|
G | T | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.231+14123C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298445 | ||||||
| chrX:44298468
|
AG | A | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+14099delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298468 | ||||||
| chrX:44298615
|
C | T | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.231+13953G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298615 | ||||||
| chrX:44298715
|
G | T | 2 | a0001c0001t0001g0177a0001c0001t0001g0185 | 2 | HG00280.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.231+13853C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298715 | ||||||
| chrX:44298860
|
C | CA | 8 | a0001c0001t0001g0095a0001c0001t0001g0132a0001c0001t0001g0185others(5): Show | 8 | HG01361.hp2 HG02027.hp1 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.231+13707dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | ||||||
| chrX:44298860
|
C | CAA | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.231+13706_231+1370 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | ||||||
| chrX:44298860
|
CA | C | 43 | a0001c0001t0001g0153a0001c0001t0001g0200a0001c0001t0001g0214others(40): Show | 43 | HG00741.hp1 HG00741.hp2 HG01070.hp2 others(40): Show |
intron_variant | MODIFIER | c.231+13707delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | ||||||
| chrX:44298860
|
CAA | C | 19 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0017others(16): Show | 19 | HG01070.hp1 HG01255.hp1 HG01496.hp2 others(16): Show |
intron_variant | MODIFIER | c.231+13706_231+1370 others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | ||||||
| chrX:44298860
|
CAAA | C | 15 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099others(12): Show | 15 | HG02615.hp1 HG02717.hp1 HG02723.hp1 others(12): Show |
intron_variant | MODIFIER | c.231+13705_231+1370 others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | ||||||
| chrX:44298860
|
CAAAA | C | 4 | a0001c0001t0001g0211a0001c0001t0003g0037a0001c0001t0006g0023others(1): Show | 4 | HG01169.hp1 HG02723.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.231+13704_231+1370 others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298860 | ||||||
| chrX:44298907
|
A | G | 3 | a0001c0001t0005g0091a0001c0001t0005g0212a0010c0012t0001g0071 | 3 | NA18970.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.231+13661T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44298907 | ||||||
| chrX:44299057
|
C | T | 59 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(56): Show | 59 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(56): Show |
intron_variant | MODIFIER | c.231+13511G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299057 | ||||||
| chrX:44299136
|
A | T | 1 | a0001c0001t0003g0119 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.231+13432T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299136 | ||||||
| chrX:44299200
|
C | T | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.231+13368G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299200 | ||||||
| chrX:44299275
|
T | A | 2 | a0001c0001t0001g0085a0001c0001t0004g0105 | 2 | HG02630.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.231+13293A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299275 | ||||||
| chrX:44299299
|
TG | T | 1 | a0001c0001t0009g0007 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.231+13268delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299299 | ||||||
| chrX:44299537
|
C | T | 3 | a0001c0001t0001g0008a0001c0001t0009g0007a0001c0001t0009g0009 | 3 | HG01255.hp1 HG02257.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.231+13031G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299537 | ||||||
| chrX:44299643
|
C | A | 56 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(53): Show | 56 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(53): Show |
intron_variant | MODIFIER | c.231+12925G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299643 | ||||||
| chrX:44299676
|
TC | T | 1 | a0013c0014t0023g0191 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.231+12891delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299676 | ||||||
| chrX:44299827
|
G | A | 1 | a0010c0012t0001g0071 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.231+12741C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299827 | ||||||
| chrX:44299870
|
C | CG | 1 | a0001c0001t0005g0004 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.231+12697dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299870 | ||||||
| chrX:44299939
|
A | G | 1 | a0002c0002t0002g0164 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.231+12629T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299939 | ||||||
| chrX:44299946
|
TA | T | 2 | a0003c0003t0002g0186a0005c0005t0001g0056 | 2 | HG01070.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.231+12621delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299946 | ||||||
| chrX:44299954
|
A | T | 5 | a0001c0001t0001g0068a0002c0002t0007g0118a0002c0002t0007g0155others(2): Show | 5 | HG00438.hp1 HG01256.hp1 HG02165.hp2 others(2): Show |
intron_variant | MODIFIER | c.231+12614T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299954 | ||||||
| chrX:44299955
|
T | C | 4 | a0001c0001t0001g0194a0001c0001t0009g0158a0001c0001t0009g0179others(1): Show | 4 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+12613A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44299955 | ||||||
| chrX:44300127
|
C | CA | 61 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(58): Show | 61 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(58): Show |
intron_variant | MODIFIER | c.231+12440_231+1244 others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300127 | ||||||
| chrX:44300570
|
T | G | 1 | a0001c0001t0003g0088 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.231+11998A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300570 | ||||||
| chrX:44300844
|
C | A | 1 | a0001c0001t0001g0103 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.231+11724G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300844 | ||||||
| chrX:44300906
|
C | T | 3 | a0001c0001t0008g0031a0001c0001t0012g0032a0001c0001t0012g0033 | 3 | HG02717.hp1 HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.231+11662G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300906 | ||||||
| chrX:44300971
|
G | A | 40 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(37): Show | 40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.231+11597C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44300971 | ||||||
| chrX:44301058
|
C | T | 21 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099others(18): Show | 21 | HG01169.hp1 HG01361.hp1 HG02615.hp1 others(18): Show |
intron_variant | MODIFIER | c.231+11510G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44301058 | ||||||
| chrX:44301093
|
G | C | 3 | a0001c0001t0005g0091a0001c0001t0005g0212a0010c0012t0001g0071 | 3 | NA18970.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.231+11475C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44301093 | ||||||
| chrX:44301109
|
C | CA | 14 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0076others(11): Show | 14 | HG01169.hp2 HG01361.hp1 HG02040.hp1 others(11): Show |
intron_variant | MODIFIER | c.231+11458dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44301109 | ||||||
| chrX:44301323
|
T | TC | 1 | a0001c0001t0004g0175 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.231+11244dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44301323 | ||||||
| chrX:44302186
|
G | A | 20 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0034others(17): Show | 20 | HG01169.hp1 HG01361.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.231+10382C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302186 | ||||||
| chrX:44302229
|
A | G | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+10339T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302229 | ||||||
| chrX:44302275
|
GA | G | 3 | a0001c0001t0001g0200a0001c0001t0008g0199a0001c0001t0008g0202 | 3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.231+10292delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302275 | ||||||
| chrX:44302283
|
C | T | 3 | a0001c0001t0001g0200a0001c0001t0008g0199a0001c0001t0008g0202 | 3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.231+10285G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302283 | ||||||
| chrX:44302359
|
GT | G | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.231+10208delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302359 | ||||||
| chrX:44302371
|
AG | A | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.231+10196delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302371 | ||||||
| chrX:44302481
|
T | C | 2 | a0001c0001t0001g0034a0001c0001t0008g0035 | 2 | HG03195.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.231+10087A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302481 | ||||||
| chrX:44302797
|
T | C | 1 | a0001c0001t0001g0167 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.231+9771A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302797 | ||||||
| chrX:44302846
|
T | C | 9 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(6): Show | 9 | HG00741.hp1 HG01358.hp1 HG02074.hp1 others(6): Show |
intron_variant | MODIFIER | c.231+9722A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44302846 | ||||||
| chrX:44303031
|
A | C | 21 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0034others(18): Show | 21 | HG01169.hp1 HG01361.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.231+9537T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303031 | ||||||
| chrX:44303038
|
C | T | 75 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0015others(72): Show | 75 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(72): Show |
intron_variant | MODIFIER | c.231+9530G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303038 | ||||||
| chrX:44303310
|
C | T | 1 | a0001c0001t0001g0167 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.231+9258G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303310 | ||||||
| chrX:44303633
|
T | TA | 2 | a0001c0001t0005g0004a0001c0001t0008g0041 | 2 | HG02809.hp2 NA18940.hp1 |
intron_variant | MODIFIER | c.231+8934dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303633 | ||||||
| chrX:44303633
|
TA | T | 4 | a0001c0001t0002g0097a0001c0001t0006g0036a0002c0002t0007g0166others(1): Show | 4 | HG01081.hp2 HG01975.hp2 HG02615.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+8934delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303633 | ||||||
| chrX:44303682
|
TA | T | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.231+8885delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303682 | ||||||
| chrX:44303794
|
A | C | 1 | a0001c0001t0019g0067 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.231+8774T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303794 | ||||||
| chrX:44303817
|
G | GT | 1 | a0012c0016t0003g0182 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.231+8750dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303817 | ||||||
| chrX:44303822
|
G | T | 1 | a0001c0001t0008g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.231+8746C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303822 | ||||||
| chrX:44303830
|
C | T | 41 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(38): Show | 41 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.231+8738G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303830 | ||||||
| chrX:44303938
|
T | C | 1 | a0001c0001t0008g0031 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.231+8630A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44303938 | ||||||
| chrX:44304179
|
T | G | 4 | a0002c0002t0004g0207a0002c0002t0004g0209a0002c0008t0004g0055others(1): Show | 4 | HG02074.hp1 NA18943.hp1 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.231+8389A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304179 | ||||||
| chrX:44304196
|
TAG | T | 41 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(38): Show | 41 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.231+8370_231+8371d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304196 | ||||||
| chrX:44304209
|
G | A | 1 | a0001c0001t0004g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.231+8359C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304209 | ||||||
| chrX:44304262
|
CT | C | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.231+8305delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304262 | ||||||
| chrX:44304522
|
C | T | 41 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(38): Show | 41 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(38): Show |
intron_variant | MODIFIER | c.231+8046G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304522 | ||||||
| chrX:44304769
|
G | A | 1 | a0001c0001t0003g0184 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.231+7799C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304769 | ||||||
| chrX:44304995
|
C | T | 38 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(35): Show | 38 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.231+7573G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44304995 | ||||||
| chrX:44305030
|
G | A | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.231+7538C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305030 | ||||||
| chrX:44305194
|
G | A | 38 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(35): Show | 38 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(35): Show |
intron_variant | MODIFIER | c.231+7374C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305194 | ||||||
| chrX:44305248
|
C | T | 1 | a0001c0001t0008g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.231+7320G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305248 | ||||||
| chrX:44305271
|
T | A | 26 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(23): Show | 26 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.231+7297A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305271 | ||||||
| chrX:44305474
|
A | AT | 5 | a0001c0001t0001g0104a0001c0001t0001g0211a0001c0001t0002g0038others(2): Show | 5 | HG01169.hp1 HG02615.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.231+7093dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305474 | ||||||
| chrX:44305559
|
T | G | 42 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(39): Show | 42 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(39): Show |
intron_variant | MODIFIER | c.231+7009A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305559 | ||||||
| chrX:44305597
|
A | C | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.231+6971T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305597 | ||||||
| chrX:44305628
|
G | A | 2 | a0001c0001t0001g0123a0001c0001t0001g0168 | 2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.231+6940C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305628 | ||||||
| chrX:44305730
|
CAA | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.231+6836_231+6837d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305730 | ||||||
| chrX:44305916
|
G | A | 1 | a0001c0001t0001g0148 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.231+6652C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305916 | ||||||
| chrX:44305946
|
C | T | 3 | a0006c0007t0002g0025a0006c0007t0002g0026a0006c0007t0002g0203 | 3 | HG02572.hp1 HG02818.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.231+6622G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44305946 | ||||||
| chrX:44306024
|
G | A | 3 | a0001c0001t0005g0091a0001c0001t0005g0212a0010c0012t0001g0071 | 3 | NA18970.hp1 NA18981.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.231+6544C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306024 | ||||||
| chrX:44306064
|
T | C | 40 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(37): Show | 40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.231+6504A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306064 | ||||||
| chrX:44306179
|
GC | G | 1 | a0011c0013t0016g0157 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.231+6388delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306179 | ||||||
| chrX:44306366
|
T | C | 40 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(37): Show | 40 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(37): Show |
intron_variant | MODIFIER | c.231+6202A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306366 | ||||||
| chrX:44306626
|
G | A | 10 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(7): Show | 10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.231+5942C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306626 | ||||||
| chrX:44306845
|
G | A | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.231+5723C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44306845 | ||||||
| chrX:44307039
|
A | AG | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.231+5528dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307039 | ||||||
| chrX:44307171
|
G | A | 2 | a0003c0003t0002g0186a0003c0003t0002g0187 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.231+5397C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307171 | ||||||
| chrX:44307326
|
A | G | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+5242T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307326 | ||||||
| chrX:44307408
|
C | A | 3 | a0002c0002t0002g0077a0002c0002t0002g0079a0002c0002t0002g0080 | 3 | HG01934.hp1 HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.231+5160G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307408 | ||||||
| chrX:44307648
|
G | A | 1 | a0001c0001t0005g0169 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.231+4920C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307648 | ||||||
| chrX:44307680
|
T | C | 10 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(7): Show | 10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.231+4888A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307680 | ||||||
| chrX:44307750
|
A | G | 2 | a0001c0001t0001g0074a0001c0001t0010g0073 | 2 | HG02280.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.231+4818T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307750 | ||||||
| chrX:44307804
|
C | T | 1 | a0001c0001t0003g0208 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.231+4764G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307804 | ||||||
| chrX:44307933
|
C | CA | 9 | a0001c0001t0001g0008a0001c0001t0005g0091a0001c0001t0005g0212others(6): Show | 9 | HG01255.hp1 HG02257.hp2 HG02809.hp2 others(6): Show |
intron_variant | MODIFIER | c.231+4634dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307933 | ||||||
| chrX:44307933
|
C | G | 1 | a0002c0002t0002g0201 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.231+4635G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307933 | ||||||
| chrX:44307933
|
CA | C | 69 | a0001c0001t0001g0053a0001c0001t0001g0086a0001c0001t0001g0093others(66): Show | 69 | HG00140.hp1 HG00558.hp1 HG00621.hp1 others(66): Show |
intron_variant | MODIFIER | c.231+4634delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307933 | ||||||
| chrX:44307948
|
A | AT | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.231+4619dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307948 | ||||||
| chrX:44307948
|
A | T | 8 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(5): Show | 8 | HG01358.hp1 HG02074.hp1 HG02698.hp1 others(5): Show |
intron_variant | MODIFIER | c.231+4620T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44307948 | ||||||
| chrX:44308535
|
C | T | 74 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0015others(71): Show | 74 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(71): Show |
intron_variant | MODIFIER | c.231+4033G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44308535 | ||||||
| chrX:44309153
|
A | C | 1 | a0001c0001t0006g0078 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.231+3415T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309153 | ||||||
| chrX:44309247
|
T | C | 53 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(50): Show | 53 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.231+3321A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309247 | ||||||
| chrX:44309275
|
G | GA | 75 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0015others(72): Show | 75 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(72): Show |
intron_variant | MODIFIER | c.231+3292dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309275 | ||||||
| chrX:44309382
|
C | T | 1 | a0002c0002t0002g0062 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.231+3186G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309382 | ||||||
| chrX:44309464
|
T | C | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.231+3104A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309464 | ||||||
| chrX:44309684
|
T | A | 53 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(50): Show | 53 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(50): Show |
intron_variant | MODIFIER | c.231+2884A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309684 | ||||||
| chrX:44309891
|
G | C | 2 | a0001c0001t0002g0081a0001c0001t0002g0107 | 2 | HG02886.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.231+2677C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309891 | ||||||
| chrX:44309895
|
T | G | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.231+2673A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309895 | ||||||
| chrX:44309979
|
C | T | 1 | a0001c0001t0004g0175 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.231+2589G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44309979 | ||||||
| chrX:44310057
|
T | C | 74 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0015others(71): Show | 74 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(71): Show |
intron_variant | MODIFIER | c.231+2511A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310057 | ||||||
| chrX:44310247
|
A | AGGGTTTC others(16): Show |
50 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(47): Show | 50 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(47): Show |
intron_variant | MODIFIER | c.231+2298_231+2320d others(25): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310247 | ||||||
| chrX:44310282
|
C | CG | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.231+2285dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310282 | ||||||
| chrX:44310327
|
C | G | 1 | a0001c0001t0001g0160 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.231+2241G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310327 | ||||||
| chrX:44310464
|
G | A | 1 | a0004c0004t0002g0028 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.231+2104C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310464 | ||||||
| chrX:44310584
|
T | C | 1 | a0001c0001t0006g0023 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.231+1984A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44310584 | ||||||
| chrX:44311289
|
C | CA | 7 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0006g0005others(4): Show | 7 | HG02280.hp2 HG02451.hp2 HG02818.hp1 others(4): Show |
intron_variant | MODIFIER | c.231+1278dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311289 | ||||||
| chrX:44311289
|
CA | C | 1 | a0001c0001t0005g0004 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.231+1278delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311289 | ||||||
| chrX:44311652
|
A | T | 1 | a0001c0001t0001g0137 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.231+916T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311652 | ||||||
| chrX:44311858
|
CACAT | C | 49 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(46): Show | 49 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.231+706_231+709del others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311858 | ||||||
| chrX:44311866
|
G | A | 49 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(46): Show | 49 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.231+702C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44311866 | ||||||
| chrX:44312062
|
G | A | 49 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(46): Show | 49 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(46): Show |
intron_variant | MODIFIER | c.231+506C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312062 | ||||||
| chrX:44312076
|
T | A | 12 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(9): Show | 12 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.231+492A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312076 | ||||||
| chrX:44312119
|
C | T | 27 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(24): Show | 27 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.231+449G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312119 | ||||||
| chrX:44312145
|
C | T | 22 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0034others(19): Show | 22 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(19): Show |
intron_variant | MODIFIER | c.231+423G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312145 | ||||||
| chrX:44312322
|
T | C | 52 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(49): Show | 52 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(49): Show |
intron_variant | MODIFIER | c.231+246A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | 44312322 | ||||||
| chrX:44313060
|
G | A | 1 | a0001c0001t0001g0116 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.43-304C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313060 | ||||||
| chrX:44313095
|
C | CA | 16 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0034others(13): Show | 16 | HG01169.hp1 HG01361.hp1 HG02055.hp1 others(13): Show |
intron_variant | MODIFIER | c.43-340dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313095 | ||||||
| chrX:44313109
|
A | AAAG | 1 | a0001c0001t0005g0212 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.43-354_43-353insCT others(1): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313109 | ||||||
| chrX:44313109
|
A | AAG | 51 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(48): Show | 51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-354_43-353insCT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313109 | ||||||
| chrX:44313109
|
AAAAG | A | 1 | a0001c0001t0001g0052 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.43-357_43-354delCT others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313109 | ||||||
| chrX:44313318
|
G | A | 10 | a0001c0001t0001g0194a0001c0001t0001g0200a0001c0001t0008g0199others(7): Show | 10 | HG00741.hp2 HG01070.hp2 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.43-562C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313318 | ||||||
| chrX:44313650
|
C | T | 51 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(48): Show | 51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-894G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313650 | ||||||
| chrX:44313787
|
C | G | 23 | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0034others(20): Show | 23 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(20): Show |
intron_variant | MODIFIER | c.43-1031G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313787 | ||||||
| chrX:44313828
|
A | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.43-1072T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313828 | ||||||
| chrX:44313879
|
TG | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-1124delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313879 | ||||||
| chrX:44313933
|
C | CA | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-1178dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44313933 | ||||||
| chrX:44314040
|
G | A | 21 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099others(18): Show | 21 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(18): Show |
intron_variant | MODIFIER | c.43-1284C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314040 | ||||||
| chrX:44314068
|
G | A | 2 | a0002c0008t0004g0055a0002c0008t0004g0128 | 2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.43-1312C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314068 | ||||||
| chrX:44314183
|
TA | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-1428delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314183 | ||||||
| chrX:44314213
|
GCT | G | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.43-1459_43-1458del others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314213 | ||||||
| chrX:44314302
|
G | A | 2 | a0002c0002t0002g0014a0002c0002t0002g0090 | 2 | HG01074.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.43-1546C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314302 | ||||||
| chrX:44314393
|
GT | G | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-1638delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314393 | ||||||
| chrX:44314408
|
TG | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-1653delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314408 | ||||||
| chrX:44314575
|
T | C | 51 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(48): Show | 51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-1819A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314575 | ||||||
| chrX:44314625
|
TAC | T | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.43-1871_43-1870del others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314625 | ||||||
| chrX:44314841
|
C | CT | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-2086dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314841 | ||||||
| chrX:44314856
|
A | T | 27 | a0001c0001t0001g0012a0001c0001t0002g0082a0001c0001t0002g0096others(24): Show | 27 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(24): Show |
intron_variant | MODIFIER | c.43-2100T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314856 | ||||||
| chrX:44314896
|
GA | G | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-2141delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314896 | ||||||
| chrX:44314917
|
G | A | 5 | a0001c0001t0003g0136a0001c0001t0003g0171a0001c0001t0006g0170others(2): Show | 5 | NA18955.hp1 NA18967.hp1 NA18984.hp1 others(2): Show |
intron_variant | MODIFIER | c.43-2161C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44314917 | ||||||
| chrX:44315073
|
TC | T | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-2318delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315073 | ||||||
| chrX:44315080
|
A | C | 4 | a0001c0001t0001g0072a0001c0001t0005g0091a0001c0001t0005g0212others(1): Show | 4 | HG02155.hp1 NA18970.hp1 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.43-2324T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315080 | ||||||
| chrX:44315263
|
CT | C | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-2508delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315263 | ||||||
| chrX:44315265
|
T | C | 51 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(48): Show | 51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-2509A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315265 | ||||||
| chrX:44315408
|
G | A | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.43-2652C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315408 | ||||||
| chrX:44315416
|
T | A | 1 | a0005c0005t0001g0056 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.43-2660A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315416 | ||||||
| chrX:44315595
|
A | G | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.43-2839T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315595 | ||||||
| chrX:44315771
|
G | T | 1 | a0002c0002t0002g0062 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.43-3015C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315771 | ||||||
| chrX:44315786
|
C | G | 51 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(48): Show | 51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-3030G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315786 | ||||||
| chrX:44315828
|
T | TA | 3 | a0001c0001t0024g0221a0008c0010t0003g0172a0008c0010t0006g0163 | 3 | HG06807.hp2 NA18983.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.43-3073dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44315828 | ||||||
| chrX:44316125
|
G | T | 1 | a0001c0001t0004g0092 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.43-3369C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316125 | ||||||
| chrX:44316143
|
T | C | 1 | a0001c0001t0004g0175 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.43-3387A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316143 | ||||||
| chrX:44316418
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.43-3662C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316418 | ||||||
| chrX:44316483
|
C | T | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.43-3727G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316483 | ||||||
| chrX:44316596
|
T | TA | 52 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(49): Show | 52 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(49): Show |
intron_variant | MODIFIER | c.43-3841dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316596 | ||||||
| chrX:44316689
|
T | TA | 25 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0001g0099others(22): Show | 25 | HG00738.hp1 HG01169.hp1 HG01361.hp1 others(22): Show |
intron_variant | MODIFIER | c.43-3934dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316689 | ||||||
| chrX:44316885
|
AAGACCGT others(30): Show |
A | 1 | a0001c0001t0001g0072 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.43-4166_43-4130del others(37): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316885 | ||||||
| chrX:44316928
|
G | A | 1 | a0001c0001t0001g0024 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.43-4172C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44316928 | ||||||
| chrX:44317019
|
C | T | 1 | a0001c0006t0001g0030 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.43-4263G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317019 | ||||||
| chrX:44317085
|
G | A | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.43-4329C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317085 | ||||||
| chrX:44317439
|
C | A | 1 | a0001c0001t0003g0188 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.43-4683G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317439 | ||||||
| chrX:44317679
|
G | A | 1 | a0001c0001t0004g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.43-4923C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317679 | ||||||
| chrX:44317935
|
C | G | 51 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(48): Show | 51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-5179G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317935 | ||||||
| chrX:44317986
|
A | G | 55 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(52): Show | 55 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(52): Show |
intron_variant | MODIFIER | c.43-5230T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44317986 | ||||||
| chrX:44318546
|
C | G | 31 | a0001c0001t0001g0013a0001c0001t0001g0065a0001c0001t0001g0068others(28): Show | 31 | HG00438.hp2 HG01261.hp1 HG01361.hp2 others(28): Show |
intron_variant | MODIFIER | c.43-5790G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44318546 | ||||||
| chrX:44318622
|
A | G | 1 | a0001c0001t0005g0192 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.43-5866T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44318622 | ||||||
| chrX:44318667
|
T | G | 51 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(48): Show | 51 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(48): Show |
intron_variant | MODIFIER | c.43-5911A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44318667 | ||||||
| chrX:44319002
|
C | CT | 46 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0017others(43): Show | 46 | HG00438.hp1 HG00741.hp1 HG00741.hp2 others(43): Show |
intron_variant | MODIFIER | c.43-6247dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319002 | ||||||
| chrX:44319002
|
C | CTT | 1 | a0003c0003t0002g0109 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.43-6248_43-6247dup others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319002 | ||||||
| chrX:44319002
|
CT | C | 4 | a0001c0001t0001g0089a0001c0001t0001g0132a0001c0001t0003g0088others(1): Show | 4 | HG02015.hp1 HG02027.hp1 NA18982.hp1 others(1): Show |
intron_variant | MODIFIER | c.43-6247delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319002 | ||||||
| chrX:44319051
|
C | T | 4 | a0001c0001t0001g0072a0001c0001t0005g0091a0001c0001t0005g0212others(1): Show | 4 | HG02155.hp1 NA18970.hp1 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.43-6295G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319051 | ||||||
| chrX:44319064
|
C | T | 2 | a0002c0008t0004g0055a0002c0008t0004g0128 | 2 | NA18943.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.43-6308G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319064 | ||||||
| chrX:44319123
|
C | A | 1 | a0001c0001t0004g0063 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.43-6367G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319123 | ||||||
| chrX:44319160
|
C | T | 26 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(23): Show | 26 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.43-6404G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319160 | ||||||
| chrX:44319199
|
C | T | 11 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0024others(8): Show | 11 | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
intron_variant | MODIFIER | c.43-6443G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319199 | ||||||
| chrX:44319298
|
G | A | 4 | a0001c0001t0001g0072a0001c0001t0005g0091a0001c0001t0005g0212others(1): Show | 4 | HG02155.hp1 NA18970.hp1 NA18981.hp2 others(1): Show |
intron_variant | MODIFIER | c.43-6542C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319298 | ||||||
| chrX:44319414
|
G | C | 1 | a0003c0003t0002g0109 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.43-6658C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319414 | ||||||
| chrX:44319427
|
C | T | 2 | a0001c0001t0001g0034a0001c0001t0008g0035 | 2 | HG03195.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.43-6671G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319427 | ||||||
| chrX:44319442
|
C | T | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.43-6686G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319442 | ||||||
| chrX:44319619
|
T | G | 1 | a0001c0001t0003g0165 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.43-6863A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319619 | ||||||
| chrX:44319789
|
TAAGTA | T | 1 | a0001c0001t0001g0104 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.43-7038_43-7034del others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44319789 | ||||||
| chrX:44320011
|
C | T | 76 | a0001c0001t0001g0045a0001c0001t0001g0053a0001c0001t0001g0086others(73): Show | 76 | HG00140.hp1 HG00558.hp1 HG00621.hp1 others(73): Show |
intron_variant | MODIFIER | c.43-7255G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320011 | ||||||
| chrX:44320020
|
G | A | 3 | a0004c0004t0002g0022a0004c0004t0002g0027a0004c0004t0002g0028 | 3 | HG02809.hp1 HG03041.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.43-7264C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320020 | ||||||
| chrX:44320025
|
C | G | 1 | a0001c0001t0004g0105 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.43-7269G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320025 | ||||||
| chrX:44320163
|
G | A | 3 | a0001c0001t0001g0200a0001c0001t0008g0199a0001c0001t0008g0202 | 3 | HG03098.hp1 HG03195.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.43-7407C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320163 | ||||||
| chrX:44320292
|
C | T | 1 | a0001c0001t0003g0119 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.43-7536G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320292 | ||||||
| chrX:44320326
|
C | G | 26 | a0001c0001t0002g0082a0001c0001t0002g0096a0001c0001t0002g0101others(23): Show | 26 | HG00438.hp1 HG00741.hp1 HG01070.hp1 others(23): Show |
intron_variant | MODIFIER | c.43-7570G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320326 | ||||||
| chrX:44320486
|
G | A | 1 | a0001c0001t0007g0115 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.43-7730C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320486 | ||||||
| chrX:44320555
|
C | T | 3 | a0001c0001t0001g0085a0001c0001t0004g0105a0001c0001t0008g0031 | 3 | HG02630.hp1 HG02717.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.43-7799G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320555 | ||||||
| chrX:44320759
|
C | T | 1 | a0006c0007t0002g0203 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.43-8003G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320759 | ||||||
| chrX:44320841
|
G | C | 2 | a0003c0003t0002g0186a0003c0003t0002g0187 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.43-8085C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44320841 | ||||||
| chrX:44321016
|
A | G | 1 | a0001c0001t0005g0083 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.43-8260T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44321016 | ||||||
| chrX:44321405
|
G | A | 62 | a0001c0001t0001g0013a0001c0001t0001g0024a0001c0001t0001g0034others(59): Show | 62 | HG00140.hp1 HG00609.hp1 HG00741.hp2 others(59): Show |
intron_variant | MODIFIER | c.43-8649C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44321405 | ||||||
| chrX:44322134
|
A | G | 1 | a0002c0002t0007g0216 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.43-9378T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322134 | ||||||
| chrX:44322283
|
C | T | 142 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(139): Show | 142 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(139): Show |
intron_variant | MODIFIER | c.43-9527G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322283 | ||||||
| chrX:44322361
|
G | A | 1 | a0001c0001t0001g0104 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.43-9605C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322361 | ||||||
| chrX:44322404
|
A | G | 12 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(9): Show | 12 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.43-9648T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322404 | ||||||
| chrX:44322459
|
C | A | 1 | a0001c0001t0001g0200 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.43-9703G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322459 | ||||||
| chrX:44322596
|
G | C | 5 | a0001c0001t0001g0089a0001c0001t0001g0180a0001c0001t0005g0083others(2): Show | 5 | HG00438.hp2 HG03942.hp1 NA18982.hp1 others(2): Show |
intron_variant | MODIFIER | c.43-9840C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322596 | ||||||
| chrX:44322686
|
T | C | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.43-9930A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322686 | ||||||
| chrX:44322864
|
T | C | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.43-10108A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322864 | ||||||
| chrX:44322868
|
C | A | 1 | a0001c0001t0001g0085 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.43-10112G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322868 | ||||||
| chrX:44322893
|
A | G | 144 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(141): Show | 144 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(141): Show |
intron_variant | MODIFIER | c.43-10137T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44322893 | ||||||
| chrX:44323005
|
T | G | 1 | a0001c0001t0001g0211 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.43-10249A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323005 | ||||||
| chrX:44323007
|
C | T | 1 | a0001c0001t0001g0099 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.43-10251G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323007 | ||||||
| chrX:44323008
|
G | A | 2 | a0001c0001t0001g0114a0001c0001t0006g0043 | 2 | NA18962.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.43-10252C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323008 | ||||||
| chrX:44323120
|
A | G | 143 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(140): Show | 143 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(140): Show |
intron_variant | MODIFIER | c.43-10364T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323120 | ||||||
| chrX:44323412
|
A | G | 1 | a0001c0001t0011g0049 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.43-10656T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323412 | ||||||
| chrX:44323605
|
TC | T | 137 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(134): Show | 137 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(134): Show |
intron_variant | MODIFIER | c.43-10850delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323605 | ||||||
| chrX:44323655
|
G | A | 2 | a0006c0007t0002g0025a0006c0007t0002g0026 | 2 | HG02572.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.43-10899C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323655 | ||||||
| chrX:44323856
|
T | G | 4 | a0001c0001t0001g0103a0001c0001t0001g0211a0001c0001t0007g0115others(1): Show | 4 | HG02615.hp2 HG02965.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.43-11100A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323856 | ||||||
| chrX:44323863
|
C | A | 145 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(142): Show | 145 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(142): Show |
intron_variant | MODIFIER | c.43-11107G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44323863 | ||||||
| chrX:44324034
|
T | A | 139 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(136): Show | 139 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(136): Show |
intron_variant | MODIFIER | c.43-11278A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324034 | ||||||
| chrX:44324062
|
A | G | 1 | a0002c0002t0004g0209 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.43-11306T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324062 | ||||||
| chrX:44324202
|
G | A | 1 | a0001c0001t0004g0139 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.43-11446C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324202 | ||||||
| chrX:44324525
|
G | A | 106 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0112others(103): Show | 106 | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(103): Show |
intron_variant | MODIFIER | c.43-11769C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324525 | ||||||
| chrX:44324568
|
A | G | 11 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(8): Show | 11 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.43-11812T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324568 | ||||||
| chrX:44324900
|
C | T | 16 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0003g0016others(13): Show | 16 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(13): Show |
intron_variant | MODIFIER | c.43-12144G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44324900 | ||||||
| chrX:44325033
|
C | T | 95 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(92): Show | 95 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.43-12277G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325033 | ||||||
| chrX:44325354
|
T | C | 83 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0034others(80): Show | 83 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.43-12598A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325354 | ||||||
| chrX:44325533
|
A | G | 3 | a0001c0001t0008g0031a0001c0001t0012g0032a0001c0001t0012g0033 | 3 | HG02717.hp1 HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.43-12777T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325533 | ||||||
| chrX:44325557
|
A | C | 1 | a0001c0001t0001g0112 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.43-12801T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325557 | ||||||
| chrX:44325634
|
A | C | 1 | a0001c0001t0001g0103 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.43-12878T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325634 | ||||||
| chrX:44325676
|
A | T | 48 | a0001c0001t0001g0125a0001c0001t0001g0129a0001c0001t0001g0130others(45): Show | 48 | HG00438.hp1 HG00558.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.43-12920T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325676 | ||||||
| chrX:44325773
|
C | T | 97 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(94): Show | 97 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.43-13017G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325773 | ||||||
| chrX:44325896
|
C | CT | 1 | a0002c0008t0004g0128 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.43-13141dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325896 | ||||||
| chrX:44325896
|
CT | C | 96 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(93): Show | 96 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.43-13141delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325896 | ||||||
| chrX:44325896
|
CTT | C | 1 | a0001c0001t0012g0033 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.43-13142_43-13141d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325896 | ||||||
| chrX:44325919
|
G | T | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.43-13163C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44325919 | ||||||
| chrX:44326704
|
T | G | 1 | a0001c0001t0001g0205 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.43-13948A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326704 | ||||||
| chrX:44326717
|
A | AT | 24 | a0001c0001t0001g0137a0001c0001t0001g0159a0001c0001t0001g0160others(21): Show | 24 | HG00673.hp1 HG01106.hp1 HG01258.hp1 others(21): Show |
intron_variant | MODIFIER | c.43-13962dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | ||||||
| chrX:44326717
|
AT | A | 77 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0034others(74): Show | 77 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(74): Show |
intron_variant | MODIFIER | c.43-13962delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | ||||||
| chrX:44326717
|
ATT | A | 10 | a0001c0001t0001g0040a0001c0001t0001g0089a0001c0001t0003g0122others(7): Show | 10 | HG01168.hp2 HG01975.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.43-13963_43-13962d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | ||||||
| chrX:44326717
|
ATTT | A | 3 | a0001c0001t0001g0010a0001c0001t0006g0005a0001c0001t0012g0033 | 3 | HG02145.hp1 HG02897.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.43-13964_43-13962d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | ||||||
| chrX:44326717
|
ATTTT | A | 9 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0012others(6): Show | 9 | HG01255.hp1 HG02055.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.43-13965_43-13962d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326717 | ||||||
| chrX:44326764
|
T | C | 13 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(10): Show | 13 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.43-14008A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44326764 | ||||||
| chrX:44327380
|
GA | G | 1 | a0001c0001t0003g0051 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.43-14625delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327380 | ||||||
| chrX:44327443
|
T | C | 3 | a0001c0001t0001g0211a0001c0001t0010g0193a0004c0004t0004g0133 | 3 | HG01361.hp1 HG02965.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.43-14687A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327443 | ||||||
| chrX:44327594
|
T | A | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.43-14838A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327594 | ||||||
| chrX:44327729
|
A | T | 1 | a0001c0001t0005g0110 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.43-14973T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327729 | ||||||
| chrX:44327739
|
T | A | 5 | a0001c0001t0003g0154a0001c0001t0003g0220a0001c0001t0004g0156others(2): Show | 5 | HG01256.hp1 NA18953.hp1 NA19055.hp1 others(2): Show |
intron_variant | MODIFIER | c.43-14983A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327739 | ||||||
| chrX:44327807
|
C | T | 1 | a0003c0003t0002g0100 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.43-15051G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44327807 | ||||||
| chrX:44328009
|
T | A | 1 | a0001c0001t0002g0107 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.43-15253A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328009 | ||||||
| chrX:44328086
|
AAAGT | A | 10 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(7): Show | 10 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.43-15334_43-15331d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328086 | ||||||
| chrX:44328313
|
T | C | 2 | a0001c0001t0001g0177a0001c0001t0001g0185 | 2 | HG00280.hp1 HG02738.hp1 |
intron_variant | MODIFIER | c.42+15234A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328313 | ||||||
| chrX:44328461
|
G | T | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.42+15086C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328461 | ||||||
| chrX:44328663
|
T | C | 3 | a0001c0001t0024g0221a0006c0007t0002g0025a0006c0007t0002g0026 | 3 | HG02572.hp1 HG02818.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.42+14884A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328663 | ||||||
| chrX:44328719
|
G | T | 84 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0034others(81): Show | 84 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(81): Show |
intron_variant | MODIFIER | c.42+14828C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328719 | ||||||
| chrX:44328913
|
G | T | 104 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0017others(101): Show | 104 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.42+14634C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44328913 | ||||||
| chrX:44329238
|
C | T | 104 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0017others(101): Show | 104 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.42+14309G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329238 | ||||||
| chrX:44329345
|
A | G | 1 | a0002c0008t0004g0055 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.42+14202T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329345 | ||||||
| chrX:44329442
|
C | T | 7 | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0003g0218others(4): Show | 7 | HG00438.hp1 HG02040.hp1 HG02129.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+14105G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329442 | ||||||
| chrX:44329492
|
G | A | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.42+14055C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329492 | ||||||
| chrX:44329572
|
C | T | 7 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(4): Show | 7 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+13975G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329572 | ||||||
| chrX:44329607
|
A | AT | 82 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0034others(79): Show | 82 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(79): Show |
intron_variant | MODIFIER | c.42+13939dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329607 | ||||||
| chrX:44329607
|
A | ATT | 2 | a0002c0002t0002g0090a0009c0011t0014g0002 | 2 | HG01109.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.42+13938_42+13939d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329607 | ||||||
| chrX:44329607
|
AT | A | 9 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(6): Show | 9 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.42+13939delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329607 | ||||||
| chrX:44329607
|
ATT | A | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+13938_42+13939d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329607 | ||||||
| chrX:44329823
|
C | T | 3 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0007g0115 | 3 | HG02615.hp2 HG02723.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.42+13724G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329823 | ||||||
| chrX:44329839
|
C | T | 2 | a0001c0001t0009g0158a0001c0001t0009g0179 | 2 | HG00741.hp2 HG01070.hp2 |
intron_variant | MODIFIER | c.42+13708G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329839 | ||||||
| chrX:44329854
|
C | A | 1 | a0001c0001t0005g0178 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.42+13693G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44329854 | ||||||
| chrX:44330025
|
C | T | 80 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0034others(77): Show | 80 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(77): Show |
intron_variant | MODIFIER | c.42+13522G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330025 | ||||||
| chrX:44330085
|
C | CA | 58 | a0001c0001t0001g0123a0001c0001t0001g0132a0001c0001t0001g0159others(55): Show | 58 | HG00280.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.42+13461dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330085
|
C | CAA | 83 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0013others(80): Show | 83 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.42+13460_42+13461d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330085
|
C | CAAA | 28 | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0017others(25): Show | 28 | HG00738.hp1 HG01109.hp1 HG01243.hp1 others(25): Show |
intron_variant | MODIFIER | c.42+13459_42+13461d others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330085
|
C | CAAAA | 4 | a0001c0001t0001g0024a0001c0001t0001g0053a0001c0001t0003g0016others(1): Show | 4 | HG02280.hp2 HG02647.hp1 HG03041.hp2 others(1): Show |
intron_variant | MODIFIER | c.42+13458_42+13461d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330085
|
C | CAAAAA | 1 | a0001c0006t0001g0030 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.42+13457_42+13461d others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330085
|
CAA | C | 2 | a0006c0007t0002g0025a0006c0007t0002g0026 | 2 | HG02572.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.42+13460_42+13461d others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330085
|
CAAAA | C | 3 | a0001c0001t0008g0031a0001c0001t0012g0032a0001c0001t0012g0033 | 3 | HG02717.hp1 HG02896.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.42+13458_42+13461d others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330085
|
CAAAAAA | C | 1 | a0001c0001t0001g0111 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.42+13456_42+13461d others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330085 | ||||||
| chrX:44330161
|
C | G | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+13386G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330161 | ||||||
| chrX:44330286
|
T | C | 1 | a0002c0002t0007g0118 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.42+13261A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330286 | ||||||
| chrX:44330344
|
G | GA | 1 | a0001c0001t0002g0101 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.42+13202dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330344 | ||||||
| chrX:44330574
|
G | A | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.42+12973C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330574 | ||||||
| chrX:44330612
|
G | A | 19 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(16): Show | 19 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.42+12935C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330612 | ||||||
| chrX:44330815
|
G | A | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.42+12732C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44330815 | ||||||
| chrX:44331013
|
C | T | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+12534G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331013 | ||||||
| chrX:44331219
|
C | T | 73 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0040others(70): Show | 73 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.42+12328G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331219 | ||||||
| chrX:44331402
|
C | A | 2 | a0006c0007t0002g0025a0006c0007t0002g0026 | 2 | HG02572.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.42+12145G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331402 | ||||||
| chrX:44331661
|
A | T | 1 | a0001c0001t0003g0136 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.42+11886T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331661 | ||||||
| chrX:44331678
|
G | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+11869C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331678 | ||||||
| chrX:44331841
|
T | A | 3 | a0001c0001t0003g0016a0001c0006t0001g0029a0001c0006t0001g0030 | 3 | HG02280.hp2 HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.42+11706A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331841 | ||||||
| chrX:44331856
|
C | T | 2 | a0001c0001t0004g0134a0001c0001t0010g0135 | 2 | HG02155.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.42+11691G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331856 | ||||||
| chrX:44331969
|
T | TG | 1 | a0001c0001t0003g0119 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.42+11577dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44331969 | ||||||
| chrX:44332086
|
G | T | 128 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(125): Show | 128 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(125): Show |
intron_variant | MODIFIER | c.42+11461C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332086 | ||||||
| chrX:44332146
|
A | G | 113 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(110): Show | 113 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(110): Show |
intron_variant | MODIFIER | c.42+11401T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332146 | ||||||
| chrX:44332294
|
C | G | 8 | a0001c0001t0001g0034a0001c0001t0002g0038a0001c0001t0003g0037others(5): Show | 8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+11253G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332294 | ||||||
| chrX:44332363
|
C | T | 2 | a0006c0007t0002g0025a0006c0007t0002g0026 | 2 | HG02572.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.42+11184G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332363 | ||||||
| chrX:44332646
|
C | T | 110 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(107): Show | 110 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(107): Show |
intron_variant | MODIFIER | c.42+10901G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44332646 | ||||||
| chrX:44333000
|
A | C | 18 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0002g0107others(15): Show | 18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+10547T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333000 | ||||||
| chrX:44333004
|
TC | T | 1 | a0002c0002t0002g0190 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.42+10542delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333004 | ||||||
| chrX:44333221
|
G | A | 1 | a0001c0001t0001g0099 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.42+10326C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333221 | ||||||
| chrX:44333303
|
G | T | 10 | a0001c0001t0001g0125a0001c0001t0001g0129a0001c0001t0001g0130others(7): Show | 10 | HG02027.hp1 HG02074.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.42+10244C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333303 | ||||||
| chrX:44333420
|
C | T | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+10127G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333420 | ||||||
| chrX:44333508
|
C | T | 95 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(92): Show | 95 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.42+10039G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333508 | ||||||
| chrX:44333530
|
C | T | 11 | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0053others(8): Show | 11 | HG01168.hp2 HG01981.hp1 HG03017.hp1 others(8): Show |
intron_variant | MODIFIER | c.42+10017G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333530 | ||||||
| chrX:44333577
|
C | T | 1 | a0001c0001t0005g0110 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.42+9970G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333577 | ||||||
| chrX:44333636
|
T | C | 2 | a0004c0004t0002g0027a0004c0004t0002g0028 | 2 | HG02809.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.42+9911A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333636 | ||||||
| chrX:44333740
|
C | T | 1 | a0001c0001t0002g0107 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.42+9807G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333740 | ||||||
| chrX:44333772
|
C | T | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+9775G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333772 | ||||||
| chrX:44333874
|
C | T | 7 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(4): Show | 7 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+9673G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333874 | ||||||
| chrX:44333924
|
C | A | 2 | a0003c0003t0002g0186a0003c0003t0002g0187 | 2 | HG01070.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.42+9623G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44333924 | ||||||
| chrX:44334470
|
T | TTTTG | 1 | a0001c0001t0003g0188 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.42+9073_42+9076dup others(4): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334470 | ||||||
| chrX:44334553
|
A | G | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+8994T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334553 | ||||||
| chrX:44334624
|
C | T | 1 | a0001c0001t0001g0125 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.42+8923G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334624 | ||||||
| chrX:44334764
|
G | A | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+8783C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334764 | ||||||
| chrX:44334988
|
T | TG | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+8558dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44334988 | ||||||
| chrX:44335202
|
T | TA | 11 | a0001c0001t0001g0189a0001c0001t0001g0194a0001c0001t0001g0195others(8): Show | 11 | HG01099.hp1 HG02451.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.42+8344dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335202 | ||||||
| chrX:44335202
|
TA | T | 8 | a0001c0001t0001g0034a0001c0001t0002g0038a0001c0001t0003g0037others(5): Show | 8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+8344delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335202 | ||||||
| chrX:44335248
|
T | C | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+8299A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335248 | ||||||
| chrX:44335268
|
TC | T | 7 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(4): Show | 7 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.42+8278delG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335268 | ||||||
| chrX:44335269
|
C | T | 107 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0017others(104): Show | 107 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(104): Show |
intron_variant | MODIFIER | c.42+8278G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335269 | ||||||
| chrX:44335291
|
G | A | 1 | a0001c0001t0011g0011 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.42+8256C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335291 | ||||||
| chrX:44335374
|
T | C | 87 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0034others(84): Show | 87 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(84): Show |
intron_variant | MODIFIER | c.42+8173A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335374 | ||||||
| chrX:44335502
|
A | T | 1 | a0001c0001t0007g0124 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.42+8045T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335502 | ||||||
| chrX:44335637
|
T | G | 8 | a0001c0001t0001g0034a0001c0001t0002g0038a0001c0001t0003g0037others(5): Show | 8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+7910A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335637 | ||||||
| chrX:44335778
|
A | G | 1 | a0001c0001t0003g0220 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.42+7769T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335778 | ||||||
| chrX:44335881
|
C | T | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+7666G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44335881 | ||||||
| chrX:44336000
|
G | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+7547C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336000 | ||||||
| chrX:44336155
|
G | A | 8 | a0001c0001t0001g0034a0001c0001t0002g0038a0001c0001t0003g0037others(5): Show | 8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+7392C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336155 | ||||||
| chrX:44336216
|
G | A | 1 | a0001c0001t0005g0192 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.42+7331C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336216 | ||||||
| chrX:44336322
|
G | T | 1 | a0001c0001t0001g0194 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.42+7225C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336322 | ||||||
| chrX:44336352
|
ACTC | A | 1 | a0001c0001t0010g0193 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.42+7192_42+7194del others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336352 | ||||||
| chrX:44336384
|
CA | C | 1 | a0001c0001t0001g0123 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.42+7162delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336384 | ||||||
| chrX:44336396
|
A | T | 2 | a0001c0001t0003g0122a0001c0001t0005g0121 | 2 | NA18952.hp1 NA19058.hp1 |
intron_variant | MODIFIER | c.42+7151T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336396 | ||||||
| chrX:44336531
|
TG | T | 1 | a0001c0001t0011g0048 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.42+7015delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336531 | ||||||
| chrX:44336685
|
A | T | 18 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0002g0107others(15): Show | 18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+6862T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336685 | ||||||
| chrX:44336937
|
G | T | 3 | a0001c0001t0001g0045a0001c0001t0003g0046a0001c0015t0003g0047 | 3 | HG01168.hp2 HG01981.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.42+6610C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336937 | ||||||
| chrX:44336944
|
AT | A | 1 | a0001c0001t0005g0219 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.42+6602delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44336944 | ||||||
| chrX:44337072
|
C | T | 1 | a0003c0003t0002g0120 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.42+6475G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44337072 | ||||||
| chrX:44337084
|
C | T | 18 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0002g0107others(15): Show | 18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+6463G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44337084 | ||||||
| chrX:44337255
|
G | GT | 1 | a0001c0001t0003g0119 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.42+6291dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44337255 | ||||||
| chrX:44337867
|
T | C | 1 | a0001c0001t0002g0101 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.42+5680A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44337867 | ||||||
| chrX:44338005
|
A | G | 97 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(94): Show | 97 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.42+5542T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338005 | ||||||
| chrX:44338139
|
T | A | 18 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0002g0107others(15): Show | 18 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(15): Show |
intron_variant | MODIFIER | c.42+5408A>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338139 | ||||||
| chrX:44338294
|
A | T | 97 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(94): Show | 97 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.42+5253T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338294 | ||||||
| chrX:44338366
|
T | TG | 115 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(112): Show | 115 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(112): Show |
intron_variant | MODIFIER | c.42+5180dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338366 | ||||||
| chrX:44338431
|
G | T | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+5116C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338431 | ||||||
| chrX:44338511
|
C | CA | 3 | a0001c0001t0003g0016a0001c0006t0001g0029a0001c0006t0001g0030 | 3 | HG02280.hp2 HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.42+5035dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338511 | ||||||
| chrX:44338537
|
G | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+5010C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338537 | ||||||
| chrX:44338594
|
C | T | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+4953G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338594 | ||||||
| chrX:44338726
|
T | C | 1 | a0003c0003t0002g0100 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.42+4821A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338726 | ||||||
| chrX:44338728
|
C | CA | 13 | a0001c0001t0001g0045a0001c0001t0001g0194a0001c0001t0001g0195others(10): Show | 13 | HG01981.hp2 HG02451.hp1 HG02630.hp2 others(10): Show |
intron_variant | MODIFIER | c.42+4818dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338728 | ||||||
| chrX:44338728
|
C | CAA | 83 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0034others(80): Show | 83 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.42+4817_42+4818dup others(2): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338728 | ||||||
| chrX:44338728
|
C | CAAA | 29 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(26): Show | 29 | HG00738.hp1 HG01243.hp1 HG01255.hp1 others(26): Show |
intron_variant | MODIFIER | c.42+4816_42+4818dup others(3): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338728 | ||||||
| chrX:44338728
|
CA | C | 1 | a0001c0001t0005g0219 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.42+4818delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338728 | ||||||
| chrX:44338765
|
C | CT | 1 | a0002c0002t0007g0118 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.42+4781dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338765 | ||||||
| chrX:44338765
|
CT | C | 1 | a0001c0001t0005g0219 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.42+4781delA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338765 | ||||||
| chrX:44338817
|
G | A | 2 | a0001c0001t0003g0208a0002c0002t0004g0207 | 2 | NA18969.hp2 NA18994.hp1 |
intron_variant | MODIFIER | c.42+4730C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338817 | ||||||
| chrX:44338916
|
C | T | 1 | a0001c0001t0004g0044 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.42+4631G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338916 | ||||||
| chrX:44338989
|
G | A | 8 | a0001c0001t0001g0034a0001c0001t0002g0038a0001c0001t0003g0037others(5): Show | 8 | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+4558C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44338989 | ||||||
| chrX:44339165
|
T | TG | 21 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(18): Show | 21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4381dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339165 | ||||||
| chrX:44339191
|
C | CAAAAA | 1 | a0001c0001t0006g0043 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.42+4351_42+4355dup others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339191 | ||||||
| chrX:44339191
|
C | CAAAAAA | 89 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(86): Show | 89 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.42+4350_42+4355dup others(6): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339191 | ||||||
| chrX:44339191
|
C | CAAAAAAA | 4 | a0001c0001t0002g0038a0001c0001t0003g0037a0001c0001t0006g0036others(1): Show | 4 | HG01169.hp1 HG02615.hp1 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.42+4349_42+4355dup others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339191 | ||||||
| chrX:44339191
|
C | CAAAAAAA others(1): Show |
21 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(18): Show | 21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4348_42+4355dup others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339191 | ||||||
| chrX:44339223
|
A | T | 94 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(91): Show | 94 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.42+4324T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339223 | ||||||
| chrX:44339224
|
T | G | 6 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0003g0204others(3): Show | 6 | HG00558.hp1 NA18969.hp2 NA18971.hp1 others(3): Show |
intron_variant | MODIFIER | c.42+4323A>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339224 | ||||||
| chrX:44339296
|
T | C | 21 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(18): Show | 21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4251A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339296 | ||||||
| chrX:44339397
|
G | A | 21 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(18): Show | 21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+4150C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339397 | ||||||
| chrX:44339530
|
G | C | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+4017C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339530 | ||||||
| chrX:44339761
|
G | C | 1 | a0001c0001t0002g0101 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.42+3786C>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339761 | ||||||
| chrX:44339761
|
G | T | 1 | a0001c0001t0022g0042 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.42+3786C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339761 | ||||||
| chrX:44339875
|
T | C | 1 | a0001c0001t0020g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.42+3672A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339875 | ||||||
| chrX:44339892
|
A | C | 21 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(18): Show | 21 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.42+3655T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339892 | ||||||
| chrX:44339968
|
ATAAATAC others(10): Show |
A | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+3562_42+3578del others(17): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44339968 | ||||||
| chrX:44340021
|
C | T | 20 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0103others(17): Show | 20 | HG00738.hp1 HG01243.hp1 HG02280.hp2 others(17): Show |
intron_variant | MODIFIER | c.42+3526G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340021 | ||||||
| chrX:44340038
|
A | G | 115 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(112): Show | 115 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(112): Show |
intron_variant | MODIFIER | c.42+3509T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340038 | ||||||
| chrX:44340496
|
TA | T | 1 | a0001c0001t0015g0003 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.42+3050delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340496 | ||||||
| chrX:44340564
|
C | T | 1 | a0001c0001t0003g0016 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.42+2983G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340564 | ||||||
| chrX:44340657
|
T | TA | 1 | a0002c0002t0004g0209 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.42+2889dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340657 | ||||||
| chrX:44340706
|
C | T | 1 | a0001c0001t0008g0041 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.42+2841G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44340706 | ||||||
| chrX:44341200
|
G | T | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2347C>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341200 | ||||||
| chrX:44341201
|
C | T | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2346G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341201 | ||||||
| chrX:44341202
|
A | ATATAT | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2344_42+2345ins others(5): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341202 | ||||||
| chrX:44341204
|
A | T | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2343T>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341204 | ||||||
| chrX:44341205
|
A | C | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2342T>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341205 | ||||||
| chrX:44341206
|
C | A | 1 | a0001c0001t0004g0210 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.42+2341G>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341206 | ||||||
| chrX:44341298
|
A | G | 2 | a0001c0001t0001g0040a0001c0001t0005g0039 | 2 | NA18989.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.42+2249T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341298 | ||||||
| chrX:44341365
|
T | C | 78 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0040others(75): Show | 78 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(75): Show |
intron_variant | MODIFIER | c.42+2182A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341365 | ||||||
| chrX:44341687
|
G | A | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+1860C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341687 | ||||||
| chrX:44341854
|
T | C | 115 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(112): Show | 115 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(112): Show |
intron_variant | MODIFIER | c.42+1693A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44341854 | ||||||
| chrX:44342060
|
G | GT | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+1486dupA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342060 | ||||||
| chrX:44342104
|
TG | T | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+1442delC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342104 | ||||||
| chrX:44342150
|
C | T | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+1397G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342150 | ||||||
| chrX:44342242
|
G | GA | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+1304dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342242 | ||||||
| chrX:44342513
|
C | CA | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+1033dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342513 | ||||||
| chrX:44342618
|
T | TGTAATCC others(18): Show |
1 | a0001c0001t0015g0003 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.42+904_42+928dupCG others(23): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342618 | ||||||
| chrX:44342741
|
T | TG | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+805dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342741 | ||||||
| chrX:44342826
|
A | AG | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+720dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342826 | ||||||
| chrX:44342830
|
C | CG | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+716dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342830 | ||||||
| chrX:44342855
|
G | A | 8 | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0003g0218others(5): Show | 8 | HG00438.hp1 HG02040.hp1 HG02129.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+692C>T | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342855 | ||||||
| chrX:44342875
|
C | CA | 1 | a0001c0001t0003g0220 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.42+671dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | ||||||
| chrX:44342875
|
C | CAAAAAAA others(2): Show |
3 | a0001c0001t0001g0015a0001c0001t0001g0116a0002c0002t0002g0014 | 3 | HG01074.hp1 HG02976.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.42+663_42+671dupTT others(7): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | ||||||
| chrX:44342875
|
C | CAAAAAAA others(3): Show |
87 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0034others(84): Show | 87 | HG00558.hp2 HG00642.hp1 HG00738.hp1 others(84): Show |
intron_variant | MODIFIER | c.42+662_42+671dupTT others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | ||||||
| chrX:44342875
|
C | CAAAAAAA others(4): Show |
20 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(17): Show | 20 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(17): Show |
intron_variant | MODIFIER | c.42+661_42+671dupTT others(9): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | ||||||
| chrX:44342875
|
C | CAAAAAAA others(5): Show |
3 | a0001c0001t0001g0012a0001c0001t0007g0115a0009c0011t0014g0002 | 3 | HG02055.hp1 HG03209.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.42+660_42+671dupTT others(10): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | ||||||
| chrX:44342875
|
CA | C | 1 | a0001c0001t0024g0221 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.42+671delT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342875 | ||||||
| chrX:44342881
|
A | AAAAAAAA others(3): Show |
1 | a0001c0001t0001g0013 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.42+665_42+666insCT others(8): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342881 | ||||||
| chrX:44342914
|
T | TAG | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+631_42+632dupCT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342914 | ||||||
| chrX:44342975
|
T | C | 1 | a0001c0001t0001g0116 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.42+572A>G | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44342975 | ||||||
| chrX:44343009
|
C | G | 8 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(5): Show | 8 | HG01255.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.42+538G>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343009 | ||||||
| chrX:44343037
|
A | G | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+510T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343037 | ||||||
| chrX:44343193
|
T | TA | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+353dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343193 | ||||||
| chrX:44343322
|
G | GC | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+224dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343322 | ||||||
| chrX:44343333
|
G | GC | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+213_42+214insG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343333 | ||||||
| chrX:44343361
|
G | GA | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+185dupT | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343361 | ||||||
| chrX:44343380
|
C | T | 114 | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(111): Show | 114 | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(111): Show |
intron_variant | MODIFIER | c.42+167G>A | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343380 | ||||||
| chrX:44343396
|
A | G | 1 | a0001c0001t0005g0004 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.42+151T>C | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343396 | ||||||
| chrX:44343446
|
T | TG | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+100dupC | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343446 | ||||||
| chrX:44343486
|
A | AC | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+60dupG | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343486 | ||||||
| chrX:44343499
|
C | CT | 1 | a0009c0011t0014g0002 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.42+47_42+48insA | EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 1/14 | chrX | 44343499 |